### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = FYCO1) # charset = UTF-8 ## Genes ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{name}}" "{{chromosome}}" "{{chrom_band}}" "{{imprinting}}" "{{refseq_genomic}}" "{{refseq_UD}}" "{{reference}}" "{{url_homepage}}" "{{url_external}}" "{{allow_download}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{show_orphanet}}" "{{note_index}}" "{{note_listing}}" "{{refseq}}" "{{refseq_url}}" "{{disclaimer}}" "{{disclaimer_text}}" "{{header}}" "{{header_align}}" "{{footer}}" "{{footer_align}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{updated_by}}" "{{updated_date}}" "FYCO1" "FYVE and coiled-coil domain containing 1" "3" "p21.3" "unknown" "NC_000003.11" "UD_136019471169" "" "https://www.LOVD.nl/FYCO1" "" "1" "14673" "79443" "607182" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/FYCO1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2023-11-13 13:52:50" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00008230" "FYCO1" "FYVE and coiled-coil domain containing 1" "001" "NM_024513.3" "" "NP_078789.2" "" "" "" "-215" "8303" "4437" "46037316" "45959391" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00296" "CTRCT" "cataract (CTRCT)" "" "" "" "" "" "00006" "2014-01-16 08:42:13" "00006" "2015-03-07 14:30:33" "02891" "CTRCT18;CATC2" "cataract, type 18 (CTRCT-18, cataract, autosomal recessive congenital 2 (CATC-2))" "AR" "610019" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05165" "CCTRCT" "cataract, congenital (CCTRCT)" "" "" "" "" "" "00006" "2016-05-15 20:37:47" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "FYCO1" "00296" "FYCO1" "02891" ## Individuals ## Do not remove or alter this header ## ## Count = 70 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00065038" "" "" "" "1" "" "00006" "{PMID:Gillespie 2014:25148791}, {DOI:Gillespie 2014:10.1016/j.ophtha.2014.06.006}" "no family history" "F" "yes" "" "" "0" "" "" "" "" "00065041" "" "" "" "2" "" "00006" "{PMID:Gillespie 2014:25148791}, {DOI:Gillespie 2014:10.1016/j.ophtha.2014.06.006}" "has affected sister" "M" "yes" "" "" "0" "" "" "" "" "00260860" "" "" "" "2" "" "00006" "{PMID:Chen 2017:28418495}" "4-generation family, 2 affected brothers, unaffected heterozygous carrier parents/relatives" "M" "" "" "" "0" "" "" "" "Fam60173" "00260861" "" "" "" "3" "" "00006" "{PMID:Chen 2017:28418495}" "4-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents/relatives" "F;M" "" "" "" "0" "" "" "" "Fam60218" "00260862" "" "" "" "4" "" "00006" "{PMID:Chen 2017:28418495}" "5-generation family, 4 affected (F, 3M), unaffected heterozygous carrier parents/relatives" "F;M" "" "" "" "0" "" "" "" "Fam60237" "00260863" "" "" "" "4" "" "00006" "{PMID:Chen 2017:28418495}" "5-generation family, 4 affected (F, 3M), unaffected heterozygous carrier parents/relatives" "F;M" "" "" "" "0" "" "" "" "Fam60228" "00293398" "" "" "" "43" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293399" "" "" "" "38" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293400" "" "" "" "17" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293401" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293402" "" "" "" "5" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00385476" "" "" "" "1" "" "00000" "{PMID:Lenassi 2020:31848469}" "retrospective analysis" "F" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "15016572" "00385543" "" "" "" "1" "" "00000" "{PMID:Lenassi 2020:31848469}" "retrospective analysis" "M" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "18010355" "00434129" "" "" "" "2" "" "00006" "{PMID:Li 2019:31842807}" "2-generation family, affected mother/son" "M" "" "China" "" "0" "" "" "" "Fam1PatII1" "00434130" "" "" "" "3" "" "00006" "{PMID:Li 2019:31842807}" "2-generation family, affected mother/2 daughters" "F" "" "China" "" "0" "" "" "" "Fam2PatII1" "00434131" "" "" "" "5" "" "00006" "{PMID:Li 2019:31842807}" "4-generation family, 5 affected (5F)" "F" "" "China" "" "0" "" "" "" "Fam3PatIV1" "00434132" "" "" "" "4" "" "00006" "{PMID:Li 2019:31842807}" "4-generation family, 4 affected (2F, 2M)" "F" "" "China" "" "0" "" "" "" "Fam4PatIV1" "00434133" "" "" "" "20" "" "00006" "{PMID:Li 2019:31842807}" "6-generation family, 20 affected (9F, 11M)" "M" "" "China" "" "0" "" "" "" "Fam5PatIV12" "00441813" "" "" "" "3" "" "00006" "{PMID:Javadiyan 2017:28839118}" "2-generation family, affected mother/2 sons" "F;M" "" "Australia" "" "0" "" "" "" "CSA131" "00441824" "" "" "" "4" "" "00006" "{PMID:Ullah 2023:37629644}" "6-generation family, 4 affected (2F, 2M), unaffected heterozygous parents/relatives" "F;M" "yes" "Pakistan" "" "0" "" "" "" "FamA" "00441825" "" "" "" "4" "" "00006" "{PMID:Ullah 2023:37629644}" "4-generation family, 4 affected (4M), unaffected heterozygous parents/relatives" "M" "yes" "Pakistan" "" "0" "" "" "" "FamB" "00441826" "" "" "" "2" "" "00006" "{PMID:Ullah 2023:37629644}" "5-generation family, affected brother/sister, unaffected heterozygous parents/relatives" "F;M" "yes" "Pakistan" "" "0" "" "" "" "FamC" "00441827" "" "" "" "2" "" "00006" "{PMID:Ullah 2023:37629644}" "5-generation family, affected brothers, unaffected heterozygous parents/relatives" "M" "yes" "Pakistan" "" "0" "" "" "" "FamD" "00441828" "" "" "" "5" "" "00006" "{PMID:Iqbal 2020:32355443}" "5-generation family, 5 affected (2F, 3M), unaffected heterozygous parents/relatives" "F;M" "yes" "Pakistan" "" "0" "" "" "Punjab" "PKCC193" "00441829" "" "" "" "2" "" "00006" "{PMID:Iqbal 2020:32355443}" "5-generation family, affected brother/sister, unaffected heterozygous parents/relatives" "F;M" "yes" "Pakistan" "" "0" "" "" "Punjab" "PKCC202" "00441830" "" "" "" "4" "" "00006" "{PMID:Iqbal 2020:32355443}" "4-generation family, 4 affected (3F, M), unaffected heterozygous parents/relatives" "F;M" "yes" "Pakistan" "" "0" "" "" "Punjab" "PKCC220" "00441831" "" "" "" "2" "" "00006" "2-generation family, affected sister/brother" "Abouzeid, ARVO 2012:1723" "F;M" "yes" "Pakistan" "" "0" "" "" "" "family" "00441832" "" "" "" "3" "" "00006" "{DOI:Al-Badran2022:10.1186/s43042-022-00272-2}" "6-generation family, 3 affected (F, 2M)" "F;M" "yes" "Egypt" "" "0" "" "" "" "family" "00441833" "" "" "" "3" "" "00006" "{PMID:Barashkov 2021:33767456}" "2-generation family, 3 affected sibs (2F, M), unaffected heterozygous parents" "F;M" "" "Russia" "" "0" "" "" "Siberia-Yakut" "Fam1" "00441834" "" "" "" "10" "" "00006" "{PMID:Barashkov 2021:33767456}" "" "" "" "Russia" "" "0" "" "" "Siberia-Yakut" "controls" "00441835" "" "" "" "24" "" "00006" "{PMID:Barashkov 2021:33767456}" "24/28 families" "" "" "Russia" "" "0" "" "" "Siberia-Yakut" "families" "00441836" "" "" "" "2" "" "00006" "{PMID:Saleem 2022:35638468}" "4-generation family, 2 affected sisters, unaffected heterozygous parents/relatives" "F" "yes" "Pakistan" "" "0" "" "" "" "Fam1" "00441837" "" "" "" "4" "" "00006" "{PMID:Saleem 2022:35638468}" "4-generation family, 4 affected (3F, M), unaffected heterozygous parents/relatives" "F;M" "yes" "Pakistan" "" "0" "" "" "" "Fam2" "00441838" "" "" "" "3" "" "00006" "{PMID:Saleem 2022:35638468}" "3-generation family, 3 affected sibs (F, 2M), unaffected heterozygous parents/relatives" "F;M" "yes" "Pakistan" "" "0" "" "" "" "Fam3" "00441839" "" "" "" "3" "" "00006" "{PMID:Saleem 2022:35638468}" "2-generation family, 3 affected sibs (2F, M), unaffected heterozygous parents/relatives" "F;M" "yes" "Pakistan" "" "0" "" "" "" "Fam4" "00441840" "" "" "" "1" "" "00006" "{PMID:Saleem 2022:35638468}" "2-generation family, 1 affected, unaffected heterozygous parents/relatives" "M" "yes" "Pakistan" "" "0" "" "" "" "Fam5" "00441841" "" "" "" "2" "" "00006" "{PMID:Saleem 2022:35638468}" "2-generation family, 2 affected sibs (F, M), unaffected heterozygous parents/relatives" "F;M" "yes" "Pakistan" "" "0" "" "" "" "Fam6" "00441842" "" "" "" "21" "" "00006" "{PMID:Saleem 2022:35638468}" "analysis 25 cataract families" "" "" "Pakistan" "" "0" "" "" "" "families" "00441843" "" "" "" "10" "" "00006" "{PMID:Saleem 2022:35638468}" "analysis 25 cataract families" "" "" "Pakistan" "" "0" "" "" "" "families" "00441844" "" "" "" "14" "" "00006" "{PMID:Saleem 2022:35638468}" "analysis 25 cataract families" "" "" "Pakistan" "" "0" "" "" "" "families" "00441845" "" "" "" "9" "" "00006" "{PMID:Saleem 2022:35638468}" "analysis 25 cataract families" "" "" "Pakistan" "" "0" "" "" "" "families" "00441846" "" "" "" "1" "" "00006" "{PMID:Saleem 2022:35638468}" "analysis 25 cataract families" "" "" "Pakistan" "" "0" "" "" "" "families" "00441847" "" "" "" "24" "" "00006" "{PMID:Saleem 2022:35638468}" "analysis 25 cataract families" "" "" "Pakistan" "" "0" "" "" "" "families" "00441848" "" "" "" "16" "" "00006" "{PMID:Saleem 2022:35638468}" "analysis 25 cataract families" "" "" "Pakistan" "" "0" "" "" "" "families" "00441849" "" "" "" "6" "" "00006" "{PMID:Saleem 2022:35638468}" "analysis 25 cataract families" "" "" "Pakistan" "" "0" "" "" "" "families" "00441850" "" "" "" "11" "" "00006" "{PMID:Saleem 2022:35638468}" "analysis 25 cataract families" "" "" "Pakistan" "" "0" "" "" "" "families" "00441851" "" "" "" "15" "" "00006" "{PMID:Saleem 2022:35638468}" "analysis 25 cataract families" "" "" "Pakistan" "" "0" "" "" "" "families" "00441852" "" "" "" "4" "" "00006" "{PMID:Chen 2011:21636066}" "4-generation family, 4 affected (2F, 2M), unaffected heterozygous parents/relatives" "F;M" "yes" "Pakistan" "" "0" "" "" "" "Fam060064PKCC064" "00441853" "" "" "" "4" "" "00006" "{PMID:Chen 2011:21636066}" "4-generation family, 4 affected (4M), unaffected heterozygous parents/relatives" "M" "yes" "Pakistan" "" "0" "" "" "" "Fam060003/PKCC003" "00441854" "" "" "" "3" "" "00006" "{PMID:Chen 2011:21636066}" "4-generation family, 3 affected (2F, M), unaffected heterozygous parents/relatives" "F;M" "yes" "Pakistan" "" "0" "" "" "" "Fam060012/PKCC012" "00441855" "" "" "" "7" "" "00006" "{PMID:Chen 2011:21636066}" "4-generation family, 7 affected (4F, 3M), unaffected heterozygous parents/relatives" "F;M" "yes" "Pakistan" "" "0" "" "" "" "Fam060069/PKCC069" "00441856" "" "" "" "3" "" "00006" "{PMID:Chen 2011:21636066}" "4-generation family, 3 affected (F, 2M), unaffected heterozygous parents/relatives" "F;M" "yes" "Pakistan" "" "0" "" "" "" "Fam060054/PKCC054" "00441857" "" "" "" "4" "" "00006" "{PMID:Chen 2011:21636066}" "5-generation family, 4 affected (3F, M), unaffected heterozygous parents/relatives" "F;M" "yes" "Pakistan" "" "0" "" "" "" "Fam060041/PKCC041" "00441858" "" "" "" "3" "" "00006" "{PMID:Chen 2011:21636066}" "5-generation family, 3 affected (3F), unaffected heterozygous parents/relatives" "F" "yes" "Pakistan" "" "0" "" "" "" "Fam060044/PKCC044" "00441859" "" "" "" "4" "" "00006" "{PMID:Chen 2011:21636066}" "6-generation family, 4 affected (4M), unaffected heterozygous parents/relatives" "M" "yes" "Pakistan" "" "0" "" "" "" "Fam060091/PKCC091" "00441860" "" "" "" "5" "" "00006" "{PMID:Chen 2011:21636066}" "5-generation family, 5 affected (4F, M), unaffected heterozygous parents/relatives" "F;M" "yes" "Pakistan" "" "0" "" "" "" "Fam060094/PKCC094" "00441861" "" "" "" "3" "" "00006" "{PMID:Chen 2011:21636066}" "5-generation family, 3 affected (F, 2M), unaffected heterozygous parents/relatives" "F;M" "yes" "Pakistan" "" "0" "" "" "" "Fam060014/PKCC014" "00441862" "" "" "" "2" "" "00006" "{PMID:Chen 2011:21636066}" "4-generation family, 2 affected (F, M), unaffected heterozygous parents/relatives" "F;M" "yes" "Pakistan" "" "0" "" "" "" "Fam060058/PKCC058" "00441863" "" "" "" "2" "" "00006" "{PMID:Chen 2011:21636066}" "5-generation family, 2 affected (2F), unaffected heterozygous parents/relatives" "F" "yes" "Pakistan" "" "0" "" "" "" "Fam060031/PKCC031" "00441864" "" "" "" "1" "" "00006" "{PMID:Pras 2011:11519376}, {PMID:Chen 2011:21636066}" "" "" "yes" "Israel" "" "0" "" "" "Arab" "Fam1" "00441865" "" "" "" "1" "" "00006" "{PMID:Aprahamian 2021:34282983}" "4-generation family, 1 affected, unaffected heterozygous parents/relatives" "F" "yes" "Lebanon" "" "0" "" "" "" "family" "00441866" "" "" "" "2" "" "00006" "{PMID:Aldahmesh 2012:22935719}, {PMID:Khan 2015:26622071}" "2-generation family, 2 affected sisters, unaffected heterozygous parents" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "Cata_DGU-11;Fam15" "00441867" "" "" "" "1" "" "00006" "{PMID:Khan 2015:26622071}" "2-generation family, 1 affected, unaffected heterozygous parents" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "Fam16" "00444346" "" "" "" "1" "" "00006" "{PMID:Li 2018:29914532}" "2-generation family, 1 affected, unaffected heterozygous parents" "M" "" "China" "" "0" "" "" "" "Pat10" "00444943" "" "" "" "2" "" "00006" "{PMID:Patel 2017:27878435}" "family" "" "" "" "" "0" "" "" "" "10DG1393" "00444964" "" "" "" "2" "" "00006" "{PMID:Patel 2017:27878435}" "family" "" "" "" "" "0" "" "" "" "12DG2369" "00444998" "" "" "" "1" "" "00006" "{PMID:Reis 2013:23508780}" "" "" "" "United States" "" "0" "" "" "" "Pat12" "00445005" "" "" "" "1" "" "00006" "{PMID:Reis 2013:23508780}" "" "" "" "United States" "" "0" "" "" "" "Pat19" "00445061" "" "" "" "2" "" "00006" "{PMID:Kessel 2021:34169787}" "family, 2 affected" "" "" "Denmark" "" "0" "" "" "" "CC0000257" "00446503" "" "" "" "1" "" "00006" "{PMID:Liu 2023:37337769}" "" "F" "" "China" "" "0" "" "" "" "Fam109Pat295" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 70 "{{individualid}}" "{{diseaseid}}" "00065038" "05165" "00065041" "05165" "00260860" "00296" "00260861" "00296" "00260862" "00296" "00260863" "00296" "00293398" "00198" "00293399" "00198" "00293400" "00198" "00293401" "00198" "00293402" "00198" "00385476" "04214" "00385543" "04214" "00434129" "00296" "00434130" "00296" "00434131" "00296" "00434132" "00296" "00434133" "00296" "00441813" "00296" "00441824" "00296" "00441825" "00296" "00441826" "00296" "00441827" "00296" "00441828" "00296" "00441829" "00296" "00441830" "00296" "00441831" "00296" "00441832" "00296" "00441833" "00296" "00441834" "00000" "00441835" "00296" "00441836" "00296" "00441837" "00296" "00441838" "00296" "00441839" "00296" "00441840" "00296" "00441841" "00296" "00441842" "00296" "00441843" "00296" "00441844" "00296" "00441845" "00296" "00441846" "00296" "00441847" "00296" "00441848" "00296" "00441849" "00296" "00441850" "00296" "00441851" "00296" "00441852" "00296" "00441853" "00296" "00441854" "00296" "00441855" "00296" "00441856" "00296" "00441857" "00296" "00441858" "00296" "00441859" "00296" "00441860" "00296" "00441861" "00296" "00441862" "00296" "00441863" "00296" "00441864" "00296" "00441865" "00296" "00441866" "00296" "00441867" "00296" "00444346" "00296" "00444943" "00296" "00444964" "00296" "00444998" "00296" "00445005" "00296" "00445061" "00296" "00446503" "00296" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 00296, 02891, 04214, 05165 ## Count = 54 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000051175" "05165" "00065038" "00006" "Familial, autosomal recessive" "" "R: nuclear cataract; L: subcapsular cataract; iris slightly atrophic (more R than L)" "" "" "" "" "" "" "" "" "" "" "" "0000051178" "05165" "00065041" "00006" "Familial, autosomal recessive" "" "R: total cataract, L: central and posterior cataract; Posterior lenticonus, amblyopia and secondary glaucoma" "" "" "" "" "" "" "" "" "" "" "" "0000199392" "00296" "00260860" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "CTRCT-18" "congenital cataract" "" "0000199393" "00296" "00260861" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "CTRCT-18" "congenital cataract" "" "0000199394" "00296" "00260862" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "CTRCT-18" "congenital cataract" "" "0000199395" "00296" "00260863" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "CTRCT-18" "congenital cataract" "" "0000279271" "04214" "00385476" "00000" "Familial, autosomal recessive" "" "" "<1y" "" "" "" "" "" "" "" "bilateral paediatric cataract" "congenital cataracts" "" "0000279338" "04214" "00385543" "00000" "Familial, autosomal recessive" "" "" "<1y" "" "" "" "" "" "" "" "bilateral paediatric cataract" "congenital cataracts" "" "0000324483" "00296" "00434129" "00006" "Familial, autosomal dominant" "" "see paper; ..., nuclear cataract, white opacities" "" "" "" "" "" "" "" "" "CTRCT1" "cataract" "" "0000324484" "00296" "00434130" "00006" "Familial, autosomal dominant" "" "see paper; ..., nuclear/lamellar cataract, blue punctate opacities" "" "" "" "" "" "" "" "" "CTRCT14" "cataract" "" "0000324485" "00296" "00434131" "00006" "Familial, autosomal dominant" "" "see paper; ..., total cataract" "" "" "" "" "" "" "" "" "CTRCT33" "cataract" "" "0000324486" "00296" "00434132" "00006" "Familial, autosomal dominant" "" "see paper; ..., total cataract" "" "" "" "" "" "" "" "" "CTRCT6" "cataract" "" "0000324487" "00296" "00434133" "00006" "Familial, autosomal dominant" "" "see paper; ..., nuclear cataract, white opacities" "" "" "" "" "" "" "" "" "CTRCT5" "cataract" "" "0000331221" "00296" "00441813" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "cataract, white dots" "" "0000331224" "00296" "00441824" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "CTRCT18" "congenital cataract" "" "0000331225" "00296" "00441825" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "CTRCT18" "congenital cataract" "" "0000331226" "00296" "00441826" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "CTRCT18" "congenital cataract" "" "0000331227" "00296" "00441827" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "CTRCT18" "congenital cataract" "" "0000331228" "00296" "00441828" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "CTRCT18" "congenital cataract" "" "0000331229" "00296" "00441829" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "CTRCT18" "congenital cataract" "" "0000331230" "00296" "00441830" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "CTRCT18" "congenital cataract" "" "0000331231" "00296" "00441831" "00006" "Familial, autosomal recessive" "" "see abstract; cataract, nystagmus" "" "" "" "" "" "" "" "" "CTRCT18" "cataract" "" "0000331232" "00296" "00441832" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "CTRCT18" "congenital cataract" "" "0000331233" "00296" "00441833" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "CTRCT18" "cataract" "" "0000331234" "00296" "00441835" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CTRCT18" "cataract" "" "0000331235" "00296" "00441836" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "CTRCT18" "congenital cataract" "" "0000331236" "00296" "00441837" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "CTRCT18" "congenital cataract" "" "0000331237" "00296" "00441838" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "CTRCT18" "congenital cataract" "" "0000331238" "00296" "00441839" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "CTRCT18" "congenital cataract" "" "0000331239" "00296" "00441840" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "CTRCT18" "congenital cataract" "" "0000331240" "00296" "00441841" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "congenital cataract" "" "0000331241" "00296" "00441852" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "CTRCT18" "bilateral nuclear cataracts" "" "0000331242" "00296" "00441853" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "CTRCT18" "bilateral nuclear cataracts" "" "0000331243" "00296" "00441854" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "CTRCT18" "bilateral nuclear cataracts" "" "0000331244" "00296" "00441855" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "CTRCT18" "bilateral nuclear cataracts" "" "0000331245" "00296" "00441856" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "CTRCT18" "bilateral nuclear cataracts" "" "0000331246" "00296" "00441857" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "CTRCT18" "bilateral nuclear cataracts" "" "0000331247" "00296" "00441858" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "CTRCT18" "bilateral nuclear cataracts" "" "0000331248" "00296" "00441859" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "CTRCT18" "bilateral nuclear cataracts" "" "0000331249" "00296" "00441860" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "CTRCT18" "bilateral nuclear cataracts" "" "0000331250" "00296" "00441861" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "CTRCT18" "bilateral nuclear cataracts" "" "0000331251" "00296" "00441862" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "CTRCT18" "bilateral nuclear cataracts" "" "0000331252" "00296" "00441863" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "CTRCT18" "bilateral nuclear cataracts" "" "0000331253" "00296" "00441864" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "CTRCT18" "cataract" "" "0000331254" "00296" "00441865" "00006" "Familial, autosomal recessive" "00y09m" "see paper; ..., 4m-infantile cataract; bilateral corneal clouding, predominantly left sided gaze" "" "" "" "" "" "" "" "" "CTRCT18" "cataract" "" "0000331255" "00296" "00441866" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "CTRCT18" "congenital cataract" "" "0000331256" "00296" "00441867" "00006" "Familial, autosomal recessive" "" "see paper; ..., bilateral posterior lenticonus; 4y-significant whitening of the lenses" "" "" "" "" "" "" "" "" "CTRCT18" "cataract" "" "0000333599" "00296" "00444346" "00006" "Familial, autosomal recessive" "" "cataract" "7m" "" "" "" "" "" "" "" "" "cataract" "" "0000334193" "00296" "00444943" "00006" "Familial, autosomal recessive" "" "congenital cataract; not syndromic" "" "" "" "" "" "" "" "" "CTRCT18" "cataract" "" "0000334214" "00296" "00444964" "00006" "Familial, autosomal recessive" "" "congenital cataract; not syndromic" "" "" "" "" "" "" "" "" "CTRCT18" "cataract" "" "0000334249" "00296" "00444998" "00006" "Familial, autosomal dominant" "" "congenital cataract" "" "" "" "" "" "" "" "" "" "cataract" "" "0000334256" "00296" "00445005" "00006" "Familial, autosomal dominant" "" "congenital cataract, nystagmus; glaucoma, corneal opacity" "" "" "" "" "" "" "" "" "" "cataract" "" "0000334313" "00296" "00445061" "00006" "Familial, autosomal recessive" "" "cataract" "" "" "" "" "" "" "" "" "CTRCT18" "cataract" "" "0000335719" "00296" "00446503" "00006" "Unknown" "" "bilateral congenital cataract" "" "" "" "" "" "" "" "" "" "congenital catarct" "" ## Screenings ## Do not remove or alter this header ## ## Count = 70 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000065180" "00065038" "1" "00006" "00006" "2016-05-15 22:17:13" "00006" "2016-05-15 22:50:23" "SEQ;SEQ-NG" "DNA" "" "" "0000065183" "00065041" "1" "00006" "00006" "2016-05-15 22:17:13" "00006" "2016-05-15 22:51:41" "SEQ;SEQ-NG" "DNA" "" "" "0000261964" "00260860" "1" "00006" "00006" "2019-08-09 10:06:50" "" "" "SEQ" "DNA" "" "" "0000261965" "00260861" "1" "00006" "00006" "2019-08-09 10:06:50" "" "" "SEQ" "DNA" "" "" "0000261966" "00260862" "1" "00006" "00006" "2019-08-09 10:06:50" "" "" "SEQ" "DNA" "" "" "0000261967" "00260863" "1" "00006" "00006" "2019-08-09 10:06:50" "" "" "SEQ" "DNA" "" "" "0000294566" "00293398" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294567" "00293399" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294568" "00293400" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294569" "00293401" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294570" "00293402" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000386705" "00385476" "1" "00000" "03840" "2021-10-12 17:40:23" "" "" "SEQ-NG" "DNA" "blood" "114 genes panel tested" "0000386772" "00385543" "1" "00000" "03840" "2021-10-12 17:40:23" "" "" "SEQ-NG" "DNA" "blood" "144 genes panel tested" "0000435596" "00434129" "1" "00006" "00006" "2023-03-20 14:55:46" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000435597" "00434130" "1" "00006" "00006" "2023-03-20 14:55:46" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000435598" "00434131" "1" "00006" "00006" "2023-03-20 14:55:46" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000435599" "00434132" "1" "00006" "00006" "2023-03-20 14:55:46" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000435600" "00434133" "1" "00006" "00006" "2023-03-20 14:55:46" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000443299" "00441813" "1" "00006" "00006" "2023-11-13 11:55:01" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000443309" "00441824" "1" "00006" "00006" "2023-11-13 13:40:49" "" "" "SEQ" "DNA" "" "" "0000443310" "00441825" "1" "00006" "00006" "2023-11-13 13:40:49" "" "" "SEQ" "DNA" "" "" "0000443311" "00441826" "1" "00006" "00006" "2023-11-13 13:40:49" "" "" "SEQ" "DNA" "" "" "0000443312" "00441827" "1" "00006" "00006" "2023-11-13 13:40:49" "" "" "SEQ" "DNA" "" "" "0000443313" "00441828" "1" "00006" "00006" "2023-11-13 13:58:49" "" "" "SEQ" "DNA" "" "" "0000443314" "00441829" "1" "00006" "00006" "2023-11-13 13:58:49" "" "" "SEQ" "DNA" "" "" "0000443315" "00441830" "1" "00006" "00006" "2023-11-13 13:58:49" "" "" "SEQ" "DNA" "" "" "0000443316" "00441831" "1" "00006" "00006" "2023-11-13 14:14:12" "" "" "SEQ" "DNA" "" "" "0000443317" "00441832" "1" "00006" "00006" "2023-11-13 14:21:15" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000443318" "00441833" "1" "00006" "00006" "2023-11-13 14:32:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000443319" "00441834" "1" "00006" "00006" "2023-11-13 14:38:42" "" "" "SEQ" "DNA" "" "" "0000443320" "00441835" "1" "00006" "00006" "2023-11-13 14:42:10" "" "" "SEQ" "DNA" "" "" "0000443321" "00441836" "1" "00006" "00006" "2023-11-13 14:59:48" "" "" "SEQ" "DNA" "" "" "0000443322" "00441837" "1" "00006" "00006" "2023-11-13 14:59:48" "" "" "SEQ" "DNA" "" "" "0000443323" "00441838" "1" "00006" "00006" "2023-11-13 14:59:48" "" "" "SEQ" "DNA" "" "" "0000443324" "00441839" "1" "00006" "00006" "2023-11-13 14:59:48" "" "" "SEQ" "DNA" "" "" "0000443325" "00441840" "1" "00006" "00006" "2023-11-13 14:59:48" "" "" "SEQ" "DNA" "" "" "0000443326" "00441841" "1" "00006" "00006" "2023-11-13 14:59:48" "" "" "SEQ" "DNA" "" "" "0000443327" "00441842" "1" "00006" "00006" "2023-11-13 15:15:05" "" "" "SEQ" "DNA" "" "" "0000443328" "00441843" "1" "00006" "00006" "2023-11-13 15:15:05" "" "" "SEQ" "DNA" "" "" "0000443329" "00441844" "1" "00006" "00006" "2023-11-13 15:15:05" "" "" "SEQ" "DNA" "" "" "0000443330" "00441845" "1" "00006" "00006" "2023-11-13 15:15:05" "" "" "SEQ" "DNA" "" "" "0000443331" "00441846" "1" "00006" "00006" "2023-11-13 15:15:05" "" "" "SEQ" "DNA" "" "" "0000443332" "00441847" "1" "00006" "00006" "2023-11-13 15:15:05" "" "" "SEQ" "DNA" "" "" "0000443333" "00441848" "1" "00006" "00006" "2023-11-13 15:15:05" "" "" "SEQ" "DNA" "" "" "0000443334" "00441849" "1" "00006" "00006" "2023-11-13 15:15:05" "" "" "SEQ" "DNA" "" "" "0000443335" "00441850" "1" "00006" "00006" "2023-11-13 15:15:05" "" "" "SEQ" "DNA" "" "" "0000443336" "00441851" "1" "00006" "00006" "2023-11-13 15:15:05" "" "" "SEQ" "DNA" "" "" "0000443337" "00441852" "1" "00006" "00006" "2023-11-13 16:00:04" "" "" "SEQ" "DNA" "" "" "0000443338" "00441853" "1" "00006" "00006" "2023-11-13 16:00:04" "" "" "SEQ" "DNA" "" "" "0000443339" "00441854" "1" "00006" "00006" "2023-11-13 16:00:04" "" "" "SEQ" "DNA" "" "" "0000443340" "00441855" "1" "00006" "00006" "2023-11-13 16:00:04" "" "" "SEQ" "DNA" "" "" "0000443341" "00441856" "1" "00006" "00006" "2023-11-13 16:00:04" "" "" "SEQ" "DNA" "" "" "0000443342" "00441857" "1" "00006" "00006" "2023-11-13 16:00:04" "" "" "SEQ" "DNA" "" "" "0000443343" "00441858" "1" "00006" "00006" "2023-11-13 16:00:04" "" "" "SEQ" "DNA" "" "" "0000443344" "00441859" "1" "00006" "00006" "2023-11-13 16:00:04" "" "" "SEQ" "DNA" "" "" "0000443345" "00441860" "1" "00006" "00006" "2023-11-13 16:00:04" "" "" "SEQ" "DNA" "" "" "0000443346" "00441861" "1" "00006" "00006" "2023-11-13 16:00:04" "" "" "SEQ" "DNA" "" "" "0000443347" "00441862" "1" "00006" "00006" "2023-11-13 16:00:04" "" "" "SEQ" "DNA" "" "" "0000443348" "00441863" "1" "00006" "00006" "2023-11-13 16:00:04" "" "" "SEQ" "DNA" "" "" "0000443349" "00441864" "1" "00006" "00006" "2023-11-13 16:00:04" "" "" "SEQ" "DNA" "" "" "0000443350" "00441865" "1" "00006" "00006" "2023-11-13 16:06:07" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000443351" "00441866" "1" "00006" "00006" "2023-11-13 16:17:28" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000443352" "00441867" "1" "00006" "00006" "2023-11-13 16:24:26" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000445914" "00444346" "1" "00006" "00006" "2023-12-21 22:12:43" "" "" "SEQ;SEQ-NG" "DNA" "" "80 gene panel" "0000446512" "00444943" "1" "00006" "00006" "2023-12-29 13:59:22" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000446533" "00444964" "1" "00006" "00006" "2023-12-29 13:59:22" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000446567" "00444998" "1" "00006" "00006" "2023-12-29 15:44:26" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000446574" "00445005" "1" "00006" "00006" "2023-12-29 15:44:26" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000446631" "00445061" "1" "00006" "00006" "2024-01-02 15:26:57" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000448076" "00446503" "1" "00006" "00006" "2024-01-17 16:49:48" "" "" "SEQ;SEQ-NG" "DNA" "" "792 gene panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 47 "{{screeningid}}" "{{geneid}}" "0000065180" "FYCO1" "0000065183" "FYCO1" "0000261964" "FYCO1" "0000261965" "FYCO1" "0000261966" "FYCO1" "0000261967" "FYCO1" "0000386705" "FYCO1" "0000386772" "FYCO1" "0000443309" "FYCO1" "0000443310" "FYCO1" "0000443311" "FYCO1" "0000443312" "FYCO1" "0000443313" "FYCO1" "0000443314" "FYCO1" "0000443315" "FYCO1" "0000443316" "FYCO1" "0000443319" "FYCO1" "0000443320" "FYCO1" "0000443321" "FYCO1" "0000443322" "FYCO1" "0000443323" "FYCO1" "0000443324" "FYCO1" "0000443325" "FYCO1" "0000443326" "FYCO1" "0000443327" "FYCO1" "0000443328" "FYCO1" "0000443329" "FYCO1" "0000443330" "FYCO1" "0000443331" "FYCO1" "0000443332" "FYCO1" "0000443333" "FYCO1" "0000443334" "FYCO1" "0000443335" "FYCO1" "0000443336" "FYCO1" "0000443337" "FYCO1" "0000443338" "FYCO1" "0000443339" "FYCO1" "0000443340" "FYCO1" "0000443341" "FYCO1" "0000443342" "FYCO1" "0000443343" "FYCO1" "0000443344" "FYCO1" "0000443345" "FYCO1" "0000443346" "FYCO1" "0000443347" "FYCO1" "0000443348" "FYCO1" "0000443349" "FYCO1" ## Variants_On_Genome ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Count = 161 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Restriction_site}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/VIP}}" "{{VariantOnGenome/Methylation}}" "{{VariantOnGenome/ISCN}}" "{{VariantOnGenome/DNA/hg38}}" "{{VariantOnGenome/ClinVar}}" "{{VariantOnGenome/ClinicalClassification}}" "{{VariantOnGenome/ClinicalClassification/Method}}" "0000096836" "3" "90" "3" "45978036" "45978036" "subst" "0" "00006" "FYCO1_000001" "g.45978036C>G" "" "{PMID:Gillespie 2014:25148791}, {DOI:Gillespie 2014:10.1016/j.ophtha.2014.06.006}" "" "" "" "Germline" "" "" "0" "" "" "g.45936544C>G" "" "pathogenic" "" "0000096839" "3" "90" "3" "46000029" "46000029" "subst" "0" "00006" "FYCO1_000002" "g.46000029G>A" "" "{PMID:Gillespie 2014:25148791}, {DOI:Gillespie 2014:10.1016/j.ophtha.2014.06.006}" "" "" "" "Germline" "" "" "0" "" "" "g.45958537G>A" "" "pathogenic" "" "0000249034" "0" "10" "3" "46016851" "46016851" "subst" "0.441668" "02325" "FYCO1_000018" "g.46016851A>T" "" "" "" "FYCO1(NM_024513.4):c.289-14T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45975359A>T" "" "benign" "" "0000254731" "0" "30" "3" "46009705" "46009705" "subst" "0.000236214" "01943" "FYCO1_000013" "g.46009705A>G" "" "" "" "FYCO1(NM_024513.3):c.1121T>C (p.M374T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45968213A>G" "" "likely benign" "" "0000254748" "0" "30" "3" "45954613" "45954613" "subst" "0.000879155" "01943" "CXCR6_000001" "g.45954613A>G" "" "" "" "LZTFL1(NM_001276379.1):c.26T>C (p.M9T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45913121A>G" "" "likely benign" "" "0000280943" "0" "10" "3" "46008790" "46008790" "subst" "0.443071" "02325" "FYCO1_000008" "g.46008790G>A" "" "" "" "FYCO1(NM_024513.4):c.2036C>T (p.A679V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45967298G>A" "" "benign" "" "0000280944" "0" "10" "3" "46021218" "46021218" "subst" "0.808468" "02325" "FYCO1_000019" "g.46021218G>T" "" "" "" "FYCO1(NM_024513.4):c.267C>A (p.R89=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45979726G>T" "" "benign" "" "0000280945" "0" "10" "3" "45996761" "45996761" "subst" "0.791471" "02325" "FYCO1_000004" "g.45996761G>A" "" "" "" "FYCO1(NM_024513.4):c.3924C>T (p.L1308=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45955269G>A" "" "benign" "" "0000280946" "0" "10" "3" "46010077" "46010077" "subst" "0.846289" "02325" "FYCO1_000016" "g.46010077C>T" "" "" "" "FYCO1(NM_024513.4):c.749G>A (p.R250Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45968585C>T" "" "benign" "" "0000280947" "0" "10" "3" "46009864" "46009864" "subst" "0.578105" "02325" "FYCO1_000015" "g.46009864C>G" "" "" "" "FYCO1(NM_024513.4):c.962G>C (p.G321A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45968372C>G" "" "benign" "" "0000288004" "0" "30" "3" "46009763" "46009763" "subst" "0.00074846" "01943" "FYCO1_000014" "g.46009763G>A" "" "" "" "FYCO1(NM_024513.3):c.1063C>T (p.R355W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45968271G>A" "" "likely benign" "" "0000288006" "0" "90" "3" "46009538" "46009538" "subst" "0" "01943" "FYCO1_000011" "g.46009538G>A" "" "" "" "FYCO1(NM_024513.3):c.1288C>T (p.Q430*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45968046G>A" "" "pathogenic" "" "0000288007" "0" "30" "3" "46009352" "46009352" "subst" "0.00233462" "01943" "FYCO1_000010" "g.46009352G>A" "" "" "" "FYCO1(NM_024513.3):c.1474C>T (p.R492W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45967860G>A" "" "likely benign" "" "0000288008" "0" "30" "3" "46008983" "46008983" "subst" "0.0107214" "01943" "FYCO1_000009" "g.46008983G>A" "" "" "" "FYCO1(NM_024513.3):c.1843C>T (p.R615W, p.(Arg615Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45967491G>A" "" "likely benign" "" "0000288009" "0" "30" "3" "46021299" "46021299" "subst" "0.00021522" "01943" "FYCO1_000020" "g.46021299G>A" "" "" "" "FYCO1(NM_024513.3):c.186C>T (p.T62=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45979807G>A" "" "likely benign" "" "0000288010" "0" "30" "3" "46008789" "46008789" "subst" "0.000378153" "01943" "FYCO1_000007" "g.46008789C>T" "" "" "" "FYCO1(NM_024513.3):c.2037G>A (p.A679=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45967297C>T" "" "likely benign" "" "0000288011" "0" "10" "3" "46008647" "46008647" "subst" "0.00403354" "01943" "FYCO1_000006" "g.46008647G>T" "" "" "" "FYCO1(NM_024513.3):c.2179C>A (p.H727N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45967155G>T" "" "benign" "" "0000288012" "0" "30" "3" "46003735" "46003735" "subst" "0.0107906" "01943" "FYCO1_000005" "g.46003735C>T" "" "" "" "FYCO1(NM_024513.3):c.3419G>A (p.R1140Q, p.(Arg1140Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45962243C>T" "" "likely benign" "" "0000288013" "0" "30" "3" "45965190" "45965190" "subst" "0.00351681" "01943" "FYCO1_000003" "g.45965190G>A" "" "" "" "FYCO1(NM_024513.3):c.4319C>T (p.T1440I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45923698G>A" "" "likely benign" "" "0000288014" "0" "10" "3" "46010113" "46010113" "subst" "0.0011414" "01943" "FYCO1_000017" "g.46010113T>G" "" "" "" "FYCO1(NM_024513.3):c.713A>C (p.E238A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45968621T>G" "" "benign" "" "0000346092" "0" "90" "3" "46009439" "46009439" "subst" "0" "02327" "FYCO1_000022" "g.46009439C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45967947C>A" "" "pathogenic" "" "0000348195" "0" "50" "3" "45965188" "45965188" "subst" "0.000568523" "02327" "FYCO1_000021" "g.45965188G>T" "" "" "" "FYCO1(NM_024513.3):c.4321C>A (p.P1441T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45923696G>T" "" "VUS" "" "0000519885" "0" "50" "3" "45963300" "45963300" "subst" "0.000455007" "01943" "CXCR6_000002" "g.45963300G>A" "" "" "" "FYCO1(NM_024513.3):c.4394C>T (p.T1465M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45921808G>A" "" "VUS" "" "0000519886" "0" "50" "3" "45965188" "45965188" "subst" "0.000568523" "01943" "FYCO1_000021" "g.45965188G>T" "" "" "" "FYCO1(NM_024513.3):c.4321C>A (p.P1441T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45923696G>T" "" "VUS" "" "0000519889" "0" "30" "3" "46003735" "46003735" "subst" "0.0107906" "01804" "FYCO1_000005" "g.46003735C>T" "" "" "" "FYCO1(NM_024513.3):c.3419G>A (p.R1140Q, p.(Arg1140Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45962243C>T" "" "likely benign" "" "0000519890" "0" "30" "3" "46005885" "46005885" "subst" "0.000787798" "01804" "CXCR6_000004" "g.46005885T>C" "" "" "" "FYCO1(NM_024513.3):c.3212A>G (p.(Gln1071Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45964393T>C" "" "likely benign" "" "0000519892" "0" "30" "3" "46008213" "46008213" "subst" "6.16508E-5" "01943" "CXCR6_000006" "g.46008213C>T" "" "" "" "FYCO1(NM_024513.3):c.2613G>A (p.R871=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45966721C>T" "" "likely benign" "" "0000519893" "0" "10" "3" "46008820" "46008820" "subst" "0.00163877" "01943" "CXCR6_000007" "g.46008820C>T" "" "" "" "FYCO1(NM_024513.3):c.2006G>A (p.S669N, p.(Ser669Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45967328C>T" "" "benign" "" "0000519894" "0" "30" "3" "46008820" "46008820" "subst" "0.00163877" "01804" "CXCR6_000007" "g.46008820C>T" "" "" "" "FYCO1(NM_024513.3):c.2006G>A (p.S669N, p.(Ser669Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45967328C>T" "" "likely benign" "" "0000519895" "0" "10" "3" "46008841" "46008841" "subst" "0.0016447" "01943" "CXCR6_000008" "g.46008841G>A" "" "" "" "FYCO1(NM_024513.3):c.1985C>T (p.S662F, p.(Ser662Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45967349G>A" "" "benign" "" "0000519896" "0" "30" "3" "46008841" "46008841" "subst" "0.0016447" "01804" "CXCR6_000008" "g.46008841G>A" "" "" "" "FYCO1(NM_024513.3):c.1985C>T (p.S662F, p.(Ser662Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45967349G>A" "" "likely benign" "" "0000519897" "0" "30" "3" "46008939" "46008939" "subst" "0.000344087" "01943" "CXCR6_000009" "g.46008939G>A" "" "" "" "FYCO1(NM_024513.3):c.1887C>T (p.V629=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45967447G>A" "" "likely benign" "" "0000519898" "0" "30" "3" "46008983" "46008983" "subst" "0.0107214" "01804" "FYCO1_000009" "g.46008983G>A" "" "" "" "FYCO1(NM_024513.3):c.1843C>T (p.R615W, p.(Arg615Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45967491G>A" "" "likely benign" "" "0000519899" "0" "30" "3" "46009439" "46009439" "subst" "8.12229E-6" "01804" "CXCR6_000010" "g.46009439C>T" "" "" "" "FYCO1(NM_024513.3):c.1387G>A (p.(Gly463Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45967947C>T" "" "likely benign" "" "0000519900" "0" "30" "3" "46009501" "46009501" "subst" "0.00080412" "01804" "CXCR6_000011" "g.46009501C>T" "" "" "" "FYCO1(NM_024513.3):c.1325G>A (p.(Arg442Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45968009C>T" "" "likely benign" "" "0000519901" "0" "10" "3" "46009684" "46009684" "subst" "0.00271265" "01943" "CXCR6_000012" "g.46009684G>A" "" "" "" "FYCO1(NM_024513.3):c.1142C>T (p.T381M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45968192G>A" "" "benign" "" "0000519902" "0" "90" "3" "46009685" "46009685" "dup" "0" "01943" "CXCR6_000013" "g.46009685dup" "" "" "" "FYCO1(NM_024513.3):c.1141dupA (p.T381Nfs*15)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45968193dup" "" "pathogenic" "" "0000519903" "0" "30" "3" "46009810" "46009810" "subst" "0.000800917" "01804" "CXCR6_000014" "g.46009810C>T" "" "" "" "FYCO1(NM_024513.3):c.1016G>A (p.(Arg339Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45968318C>T" "" "likely benign" "" "0000519905" "0" "50" "3" "46010092" "46010092" "subst" "4.87674E-5" "01943" "CXCR6_000016" "g.46010092C>T" "" "" "" "FYCO1(NM_024513.3):c.734G>A (p.R245Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45968600C>T" "" "VUS" "" "0000519906" "0" "30" "3" "46023172" "46023172" "subst" "0.000556589" "01943" "CXCR6_000017" "g.46023172T>C" "" "" "" "FYCO1(NM_024513.3):c.56-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45981680T>C" "" "likely benign" "" "0000519907" "0" "30" "3" "46037206" "46037206" "subst" "0" "01943" "CXCR6_000018" "g.46037206G>T" "" "" "" "FYCO1(NM_024513.3):c.-113+8C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45995714G>T" "" "likely benign" "" "0000592091" "3" "90" "3" "46008620" "46008620" "subst" "2.03274E-5" "00006" "FYCO1_000023" "g.46008620G>A" "" "{PMID:Chen 2017:28418495}" "" "" "" "Germline" "yes" "" "0" "" "" "g.45967128G>A" "" "pathogenic (recessive)" "" "0000592092" "3" "90" "3" "46008481" "46008481" "del" "8.1722E-6" "00006" "FYCO1_000024" "g.46008481del" "" "{PMID:Chen 2017:28418495}" "" "2345delA" "" "Germline" "yes" "" "0" "" "" "g.45966989del" "" "pathogenic (recessive)" "" "0000592094" "3" "90" "3" "46008620" "46008620" "subst" "2.03274E-5" "00006" "FYCO1_000023" "g.46008620G>A" "" "{PMID:Chen 2017:28418495}" "" "" "" "Germline" "yes" "" "0" "" "" "g.45967128G>A" "" "pathogenic (recessive)" "" "0000592095" "3" "90" "3" "46005948" "46005948" "subst" "0" "00006" "FYCO1_000025" "g.46005948T>G" "" "{PMID:Chen 2017:28418495}" "" "" "" "Germline" "yes" "" "0" "" "" "g.45964456T>G" "" "pathogenic (recessive)" "" "0000608727" "0" "30" "3" "46008011" "46008011" "subst" "0.000138854" "01943" "CXCR6_000019" "g.46008011C>G" "" "" "" "FYCO1(NM_024513.3):c.2815G>C (p.A939P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45966519C>G" "" "likely benign" "" "0000608728" "0" "50" "3" "46016770" "46016770" "subst" "0" "02327" "CXCR6_000020" "g.46016770T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45975278T>C" "" "VUS" "" "0000651255" "1" "30" "3" "45999910" "45999910" "subst" "0.0287868" "03575" "FYCO1_000026" "g.45999910T>C" "43/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "43 heterozygous, no homozygous; {DB:CLININrs41289618}" "Germline" "" "rs41289618" "0" "" "" "g.45958418T>C" "" "likely benign" "" "0000651256" "1" "30" "3" "46003735" "46003735" "subst" "0.0107906" "03575" "FYCO1_000005" "g.46003735C>T" "38/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "38 heterozygous, no homozygous; {DB:CLININrs41289620}" "Germline" "" "rs41289620" "0" "" "" "g.45962243C>T" "" "likely benign" "" "0000651257" "1" "30" "3" "46007846" "46007846" "subst" "0.0221206" "03575" "CXCR6_000005" "g.46007846C>T" "17/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "17 heterozygous, no homozygous; {DB:CLININrs34801630}" "Germline" "" "rs34801630" "0" "" "" "g.45966354C>T" "" "likely benign" "" "0000651258" "1" "50" "3" "46008841" "46008841" "subst" "0.0016447" "03575" "CXCR6_000008" "g.46008841G>A" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs150785981}" "Germline" "" "rs150785981" "0" "" "" "g.45967349G>A" "" "VUS" "" "0000651259" "1" "50" "3" "46010113" "46010113" "subst" "0.0011414" "03575" "FYCO1_000017" "g.46010113T>G" "5/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 5 heterozygous, no homozygous; {DB:CLININrs117543659}" "Germline" "" "rs117543659" "0" "" "" "g.45968621T>G" "" "VUS" "" "0000654962" "0" "90" "3" "45963334" "45963334" "subst" "8.13114E-6" "02327" "CXCR6_000021" "g.45963334T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45921842T>C" "" "pathogenic" "" "0000677001" "0" "50" "3" "45965232" "45965232" "subst" "2.03046E-5" "01943" "CXCR6_000022" "g.45965232T>G" "" "" "" "FYCO1(NM_024513.3):c.4277A>C (p.N1426T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000677002" "0" "30" "3" "46003831" "46003831" "subst" "0.000365456" "01943" "CXCR6_000023" "g.46003831T>C" "" "" "" "FYCO1(NM_024513.3):c.3323A>G (p.K1108R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677003" "0" "30" "3" "46008214" "46008214" "subst" "0.000444225" "01943" "CXCR6_000024" "g.46008214C>T" "" "" "" "FYCO1(NM_024513.3):c.2612G>A (p.R871Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677004" "0" "50" "3" "46009574" "46009574" "subst" "0.000109638" "01943" "CXCR6_000025" "g.46009574C>T" "" "" "" "FYCO1(NM_024513.3):c.1252G>A (p.E418K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719443" "0" "70" "3" "45965239" "45965239" "subst" "4.06101E-6" "02329" "CXCR6_000003" "g.45965239G>A" "" "" "" "FYCO1(NM_024513.4):c.4270C>T (p.R1424*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000719444" "0" "50" "3" "45972696" "45972696" "subst" "8.16607E-6" "01943" "CXCR6_000026" "g.45972696G>C" "" "" "" "FYCO1(NM_024513.3):c.4118C>G (p.T1373S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719445" "0" "30" "3" "46008285" "46008285" "subst" "1.649E-5" "01943" "CXCR6_000027" "g.46008285T>C" "" "" "" "FYCO1(NM_024513.3):c.2541A>G (p.Q847=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719446" "0" "90" "3" "46010032" "46010050" "del" "0" "02329" "CXCR6_000015" "g.46010032_46010050del" "" "" "" "FYCO1(NM_024513.4):c.778_796delAACCAGGAGCTGAGGGCAG (p.N260Lfs*30)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000801238" "0" "50" "3" "46003862" "46003862" "subst" "2.8425E-5" "01943" "CXCR6_000028" "g.46003862C>T" "" "" "" "FYCO1(NM_024513.3):c.3292G>A (p.A1098T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801239" "0" "30" "3" "46008717" "46008717" "subst" "0.000276308" "01943" "CXCR6_000029" "g.46008717C>T" "" "" "" "FYCO1(NM_024513.3):c.2109G>A (p.Q703=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801240" "0" "50" "3" "46009277" "46009277" "subst" "0.000138215" "01943" "CXCR6_000030" "g.46009277A>T" "" "" "" "FYCO1(NM_024513.3):c.1549T>A (p.F517I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801241" "0" "30" "3" "46009957" "46009957" "subst" "0.000983516" "01943" "CXCR6_000031" "g.46009957C>T" "" "" "" "FYCO1(NM_024513.3):c.869G>A (p.R290H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801242" "0" "50" "3" "46011162" "46011162" "subst" "0" "01943" "CXCR6_000032" "g.46011162C>T" "" "" "" "FYCO1(NM_024513.3):c.630+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000814385" "0" "70" "3" "46014577" "46014577" "subst" "0" "00000" "FYCO1_000029" "g.46014577T>C" "" "{PMID:Lenassi 2020:31848469}" "" "FYCO1 c.539+3A>G het FYCO1 c.395+2T>G het" "heterozygous" "Germline" "?" "" "0" "" "" "g.45973085T>C" "" "likely pathogenic" "ACMG" "0000814452" "0" "90" "3" "46008383" "46008383" "del" "0" "00000" "FYCO1_000027" "g.46008383del" "" "{PMID:Lenassi 2020:31848469}" "" "FYCO1 c.2443delA p.(Met815TrpfsTer6) het FYCO1 c.1237delG p.(Glu413ArgfsTer25) het" "heterozygous" "Germline" "?" "" "0" "" "" "g.45966891del" "" "pathogenic" "ACMG" "0000814461" "0" "70" "3" "46016729" "46016729" "subst" "4.06095E-6" "00000" "FYCO1_000030" "g.46016729A>C" "" "{PMID:Lenassi 2020:31848469}" "" "FYCO1 c.539+3A>G het FYCO1 c.395+2T>G het" "heterozygous" "Germline" "?" "" "0" "" "" "g.45975237A>C" "" "likely pathogenic" "ACMG" "0000814491" "0" "90" "3" "46009591" "46009591" "del" "0" "00000" "FYCO1_000028" "g.46009591del" "" "{PMID:Lenassi 2020:31848469}" "" "FYCO1 c.2443delA p.(Met815TrpfsTer6) het FYCO1 c.1237delG p.(Glu413ArgfsTer25) het" "heterozygous" "Germline" "?" "" "0" "" "" "g.45968099del" "" "pathogenic" "ACMG" "0000850336" "0" "50" "3" "46003832" "46003832" "subst" "0.00062533" "01943" "CXCR6_000033" "g.46003832T>C" "" "" "" "FYCO1(NM_024513.3):c.3322A>G (p.K1108E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000850337" "0" "50" "3" "46008399" "46008399" "subst" "0" "01943" "CXCR6_000035" "g.46008399C>T" "" "" "" "FYCO1(NM_024513.3):c.2427G>A (p.V809=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000850338" "0" "50" "3" "46009982" "46009982" "subst" "0.000178853" "01943" "CXCR6_000037" "g.46009982G>C" "" "" "" "FYCO1(NM_024513.3):c.844C>G (p.R282G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000859029" "0" "30" "3" "46003869" "46003869" "subst" "0" "01943" "CXCR6_000034" "g.46003869G>A" "" "" "" "FYCO1(NM_024513.3):c.3285C>T (p.L1095=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859030" "0" "30" "3" "46008584" "46008584" "subst" "2.43926E-5" "01943" "CXCR6_000036" "g.46008584T>C" "" "" "" "FYCO1(NM_024513.3):c.2242A>G (p.T748A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885848" "0" "30" "3" "45954613" "45954613" "subst" "0.000879155" "02326" "CXCR6_000001" "g.45954613A>G" "" "" "" "LZTFL1(NM_001276379.1):c.26T>C (p.M9T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000921628" "0" "30" "3" "45996761" "45996761" "subst" "0.791471" "00006" "FYCO1_000004" "g.45996761G>A" "" "{PMID:Li 2019:31842807}" "" "" "" "Germline" "" "rs1463680" "0" "" "" "g.45955269G>A" "" "likely benign" "" "0000921629" "0" "30" "3" "46009491" "46009491" "subst" "0.182701" "00006" "FYCO1_000035" "g.46009491C>T" "" "{PMID:Li 2019:31842807}" "" "" "" "Germline" "" "rs3796376" "0" "" "" "g.45967999C>T" "" "likely benign" "" "0000921630" "3" "30" "3" "46010077" "46010077" "subst" "0.846289" "00006" "FYCO1_000016" "g.46010077C>T" "" "{PMID:Li 2019:31842807}" "" "" "" "Germline" "" "rs4683158" "0" "" "" "g.45968585C>T" "" "likely benign" "" "0000921648" "3" "30" "3" "46008790" "46008790" "subst" "0.443071" "00006" "FYCO1_000008" "g.46008790G>A" "" "{PMID:Li 2019:31842807}" "" "" "" "Germline" "" "rs3796375" "0" "" "" "g.45967298G>A" "" "likely benign" "" "0000921649" "3" "30" "3" "46009864" "46009864" "subst" "0.578105" "00006" "FYCO1_000015" "g.46009864C>G" "" "{PMID:Li 2019:31842807}" "" "" "" "Germline" "" "rs3733100" "0" "" "" "g.45968372C>G" "" "likely benign" "" "0000921650" "3" "30" "3" "46010077" "46010077" "subst" "0.846289" "00006" "FYCO1_000016" "g.46010077C>T" "" "{PMID:Li 2019:31842807}" "" "" "" "Germline" "" "rs4683158" "0" "" "" "g.45968585C>T" "" "likely benign" "" "0000921672" "3" "30" "3" "45996761" "45996761" "subst" "0.791471" "00006" "FYCO1_000004" "g.45996761G>A" "" "{PMID:Li 2019:31842807}" "" "" "" "Germline" "" "rs1463680" "0" "" "" "g.45955269G>A" "" "likely benign" "" "0000921673" "0" "30" "3" "46008790" "46008790" "subst" "0.443071" "00006" "FYCO1_000008" "g.46008790G>A" "" "{PMID:Li 2019:31842807}" "" "" "" "Germline" "" "rs3796375" "0" "" "" "g.45967298G>A" "" "likely benign" "" "0000921674" "0" "30" "3" "46009491" "46009491" "subst" "0.182701" "00006" "FYCO1_000035" "g.46009491C>T" "" "{PMID:Li 2019:31842807}" "" "" "" "Germline" "" "rs3796376" "0" "" "" "g.45967999C>T" "" "likely benign" "" "0000921675" "0" "30" "3" "46009864" "46009864" "subst" "0.578105" "00006" "FYCO1_000015" "g.46009864C>G" "" "{PMID:Li 2019:31842807}" "" "" "" "Germline" "" "rs3733100" "0" "" "" "g.45968372C>G" "" "likely benign" "" "0000921676" "3" "30" "3" "46010077" "46010077" "subst" "0.846289" "00006" "FYCO1_000016" "g.46010077C>T" "" "{PMID:Li 2019:31842807}" "" "" "" "Germline" "" "rs4683158" "0" "" "" "g.45968585C>T" "" "likely benign" "" "0000921677" "3" "30" "3" "46021218" "46021218" "subst" "0.808468" "00006" "FYCO1_000019" "g.46021218G>T" "" "{PMID:Li 2019:31842807}" "" "" "" "Germline" "" "rs4682801" "0" "" "" "g.45979726G>T" "" "likely benign" "" "0000921699" "3" "30" "3" "45996761" "45996761" "subst" "0.791471" "00006" "FYCO1_000004" "g.45996761G>A" "" "{PMID:Li 2019:31842807}" "" "" "" "Germline" "" "rs1463680" "0" "" "" "g.45955269G>A" "" "likely benign" "" "0000921700" "3" "30" "3" "46008790" "46008790" "subst" "0.443071" "00006" "FYCO1_000008" "g.46008790G>A" "" "{PMID:Li 2019:31842807}" "" "" "" "Germline" "" "rs3796375" "0" "" "" "g.45967298G>A" "" "likely benign" "" "0000921701" "3" "30" "3" "46009864" "46009864" "subst" "0.578105" "00006" "FYCO1_000015" "g.46009864C>G" "" "{PMID:Li 2019:31842807}" "" "" "" "Germline" "" "rs3733100" "0" "" "" "g.45968372C>G" "" "likely benign" "" "0000921702" "3" "30" "3" "46010077" "46010077" "subst" "0.846289" "00006" "FYCO1_000016" "g.46010077C>T" "" "{PMID:Li 2019:31842807}" "" "" "" "Germline" "" "rs4683158" "0" "" "" "g.45968585C>T" "" "likely benign" "" "0000921703" "3" "30" "3" "46021218" "46021218" "subst" "0.808468" "00006" "FYCO1_000019" "g.46021218G>T" "" "{PMID:Li 2019:31842807}" "" "" "" "Germline" "" "rs4682801" "0" "" "" "g.45979726G>T" "" "likely benign" "" "0000921728" "0" "30" "3" "46007823" "46007823" "subst" "0.125732" "00006" "FYCO1_000031" "g.46007823G>T" "" "{PMID:Li 2019:31842807}" "" "" "" "Germline" "" "rs13079478" "0" "" "" "g.45966331G>T" "" "likely benign" "" "0000921729" "0" "30" "3" "46007825" "46007825" "subst" "0.128193" "00006" "FYCO1_000032" "g.46007825T>C" "" "{PMID:Li 2019:31842807}" "" "" "" "Germline" "" "rs13059238" "0" "" "" "g.45966333T>C" "" "likely benign" "" "0000921730" "0" "30" "3" "46008790" "46008790" "subst" "0.443071" "00006" "FYCO1_000008" "g.46008790G>A" "" "{PMID:Li 2019:31842807}" "" "" "" "Germline" "" "rs3796375" "0" "" "" "g.45967298G>A" "" "likely benign" "" "0000921731" "0" "30" "3" "46009487" "46009487" "subst" "0.12673" "00006" "FYCO1_000034" "g.46009487G>A" "" "{PMID:Li 2019:31842807}" "" "" "" "Germline" "" "rs33910087" "0" "" "" "g.45967995G>A" "" "likely benign" "" "0000921732" "3" "30" "3" "46009864" "46009864" "subst" "0.578105" "00006" "FYCO1_000015" "g.46009864C>G" "" "{PMID:Li 2019:31842807}" "" "" "" "Germline" "" "rs3733100" "0" "" "" "g.45968372C>G" "" "likely benign" "" "0000921733" "3" "30" "3" "46021218" "46021218" "subst" "0.808468" "00006" "FYCO1_000019" "g.46021218G>T" "" "{PMID:Li 2019:31842807}" "" "" "" "Germline" "" "rs4683158" "0" "" "" "g.45979726G>T" "" "likely benign" "" "0000921734" "3" "30" "3" "45996761" "45996761" "subst" "0.791471" "00006" "FYCO1_000004" "g.45996761G>A" "" "{PMID:Li 2019:31842807}" "" "" "" "Germline" "" "rs1463680" "0" "" "" "g.45955269G>A" "" "likely benign" "" "0000921735" "0" "30" "3" "46008087" "46008087" "subst" "0.126048" "00006" "FYCO1_000033" "g.46008087G>A" "" "{PMID:Li 2019:31842807}" "" "" "" "Germline" "" "rs13079869" "0" "" "" "g.45966595G>A" "" "likely benign" "" "0000921736" "0" "30" "3" "46010007" "46010007" "subst" "0.128332" "00006" "FYCO1_000036" "g.46010007T>C" "" "{PMID:Li 2019:31842807}" "" "" "" "Germline" "" "rs13071283" "0" "" "" "g.45968515T>C" "" "likely benign" "" "0000921737" "3" "30" "3" "46010077" "46010077" "subst" "0.846289" "00006" "FYCO1_000016" "g.46010077C>T" "" "{PMID:Li 2019:31842807}" "" "" "" "Germline" "" "rs4683158" "0" "" "" "g.45968585C>T" "" "likely benign" "" "0000944701" "0" "50" "3" "46009288" "46009288" "subst" "2.43898E-5" "00006" "FYCO1_000052" "g.46009288C>T" "" "{PMID:Javadiyan 2017:28839118}" "" "" "" "Germline" "no" "" "0" "" "" "g.45967796C>T" "" "VUS" "ACMG" "0000944718" "3" "90" "3" "46008620" "46008620" "subst" "2.03274E-5" "00006" "FYCO1_000023" "g.46008620G>A" "" "{PMID:Ullah 2023:37629644}" "" "" "" "Germline" "yes" "" "0" "" "" "g.45967128G>A" "" "pathogenic (recessive)" "" "0000944719" "3" "90" "3" "46008620" "46008620" "subst" "2.03274E-5" "00006" "FYCO1_000023" "g.46008620G>A" "" "{PMID:Ullah 2023:37629644}" "" "" "" "Germline" "yes" "" "0" "" "" "g.45967128G>A" "" "pathogenic (recessive)" "" "0000944720" "3" "90" "3" "46008620" "46008620" "subst" "2.03274E-5" "00006" "FYCO1_000023" "g.46008620G>A" "" "{PMID:Ullah 2023:37629644}" "" "" "" "Germline" "yes" "" "0" "" "" "g.45967128G>A" "" "pathogenic (recessive)" "" "0000944721" "3" "90" "3" "46008620" "46008620" "subst" "2.03274E-5" "00006" "FYCO1_000023" "g.46008620G>A" "" "{PMID:Ullah 2023:37629644}" "" "" "" "Germline" "yes" "" "0" "" "" "g.45967128G>A" "" "pathogenic (recessive)" "" "0000944722" "3" "90" "3" "45965239" "45965239" "subst" "4.06101E-6" "00006" "CXCR6_000003" "g.45965239G>A" "" "{PMID:Iqbal 2020:32355443}" "" "" "" "Germline" "yes" "" "0" "" "" "g.45923747G>A" "" "pathogenic (recessive)" "" "0000944723" "3" "90" "3" "46005902" "46005902" "del" "0" "00006" "FYCO1_000046" "g.46005902del" "" "{PMID:Iqbal 2020:32355443}" "" "3196delC" "" "Germline" "yes" "" "0" "" "" "g.45964410del" "" "pathogenic (recessive)" "" "0000944724" "3" "90" "3" "45972687" "45972687" "subst" "4.07953E-6" "00006" "FYCO1_000041" "g.45972687A>G" "" "{PMID:Iqbal 2020:32355443}" "" "" "" "Germline" "yes" "" "0" "" "" "g.45931195A>G" "" "pathogenic (recessive)" "" "0000944725" "3" "90" "3" "46008620" "46008620" "subst" "2.03274E-5" "00006" "FYCO1_000023" "g.46008620G>A" "" "Abouzeid, ARVO 2012:1723" "" "" "" "Germline" "yes" "" "0" "" "" "g.45967128G>A" "" "pathogenic (recessive)" "" "0000944726" "3" "90" "3" "46009439" "46009439" "subst" "0" "00006" "FYCO1_000022" "g.46009439C>A" "" "{DOI:Al-Badran2022:10.1186/s43042-022-00272-2}" "" "" "" "Germline" "yes" "" "0" "" "" "g.45967947C>A" "" "pathogenic (recessive)" "" "0000944727" "3" "90" "3" "46009205" "46009205" "subst" "4.07093E-6" "00006" "FYCO1_000037" "g.46009205G>A" "" "{PMID:Barashkov 2021:33767456}" "" "" "" "Germline" "yes" "" "0" "" "" "g.45967713G>A" "" "pathogenic (recessive)" "" "0000944728" "0" "90" "3" "46009205" "46009205" "subst" "4.07093E-6" "00006" "FYCO1_000037" "g.46009205G>A" "10/126 control chromosomes" "{PMID:Barashkov 2021:33767456}" "" "" "" "Germline" "" "" "0" "" "" "g.45967713G>A" "" "pathogenic (recessive)" "" "0000944729" "3" "90" "3" "46009205" "46009205" "subst" "4.07093E-6" "00006" "FYCO1_000037" "g.46009205G>A" "24/29 families cataract" "{PMID:Barashkov 2021:33767456}" "" "" "" "Germline" "" "" "0" "" "" "g.45967713G>A" "" "pathogenic (recessive)" "" "0000944730" "3" "90" "3" "46005956" "46005978" "del" "0" "00006" "FYCO1_000047" "g.46005956_46005978del" "1/25 families cataract" "{PMID:Saleem 2022:35638468}" "" "" "" "Germline" "yes" "" "0" "" "" "g.45964464_45964486del" "" "pathogenic (recessive)" "" "0000944731" "3" "90" "3" "46005902" "46005902" "del" "0" "00006" "FYCO1_000041" "g.46005902del" "4/25 families cataract" "{PMID:Saleem 2022:35638468}" "" "" "" "Germline" "yes" "" "0" "" "" "g.45964410del" "" "pathogenic (recessive)" "" "0000944732" "3" "90" "3" "46005902" "46005902" "del" "0" "00006" "FYCO1_000041" "g.46005902del" "4/25 families cataract" "{PMID:Saleem 2022:35638468}" "" "" "" "Germline" "yes" "" "0" "" "" "g.45964410del" "" "pathogenic (recessive)" "" "0000944733" "3" "90" "3" "46005902" "46005902" "del" "0" "00006" "FYCO1_000041" "g.46005902del" "4/25 families cataract" "{PMID:Saleem 2022:35638468}" "" "" "" "Germline" "yes" "" "0" "" "" "g.45964410del" "" "pathogenic (recessive)" "" "0000944734" "3" "90" "3" "46005902" "46005902" "del" "0" "00006" "FYCO1_000041" "g.46005902del" "4/25 families cataract" "{PMID:Saleem 2022:35638468}" "" "" "" "Germline" "yes" "" "0" "" "" "g.45964410del" "" "pathogenic (recessive)" "" "0000944735" "1" "30" "3" "46003735" "46003735" "subst" "0.0107906" "00006" "FYCO1_000005" "g.46003735C>T" "1/25 families cataract" "{PMID:Saleem 2022:35638468}" "" "" "" "Germline" "no" "" "0" "" "" "g.45962243C>T" "" "likely benign" "" "0000944737" "3" "10" "3" "46021218" "46021218" "subst" "0.808468" "00006" "FYCO1_000019" "g.46021218G>T" "21/25 families cataract" "{PMID:Saleem 2022:35638468}" "" "" "homozygous and heterozygous cases" "Germline" "" "rs4682801" "0" "" "" "g.45979726G>T" "" "benign" "" "0000944738" "1" "10" "3" "46010007" "46010007" "subst" "0.128332" "00006" "FYCO1_000036" "g.46010007T>C" "10/25 families cataract" "{PMID:Saleem 2022:35638468}" "" "" "" "Germline" "" "rs13071283" "0" "" "" "g.45968515T>C" "" "benign" "" "0000944739" "3" "10" "3" "46009491" "46009491" "subst" "0.182701" "00006" "FYCO1_000035" "g.46009491C>T" "14/25 families cataract" "{PMID:Saleem 2022:35638468}" "" "" "homozygous and heterozygous cases" "Germline" "" "rs3796376" "0" "" "" "g.45967999C>T" "" "benign" "" "0000944740" "3" "10" "3" "46008087" "46008087" "subst" "0.126048" "00006" "FYCO1_000033" "g.46008087G>A" "9/25 families cataract" "{PMID:Saleem 2022:35638468}" "" "" "homozygous and heterozygous cases" "Germline" "" "rs13079869" "0" "" "" "g.45966595G>A" "" "benign" "" "0000944741" "1" "30" "3" "45999910" "45999910" "subst" "0.0287868" "00006" "FYCO1_000026" "g.45999910T>C" "1/25 families cataract" "{PMID:Saleem 2022:35638468}" "" "" "" "Germline" "" "rs41289618" "0" "" "" "g.45958418T>C" "" "likely benign" "" "0000944742" "3" "10" "3" "45996761" "45996761" "subst" "0.791471" "00006" "FYCO1_000004" "g.45996761G>A" "24/25 families cataract" "{PMID:Saleem 2022:35638468}" "" "" "homozygous and heterozygous cases" "Germline" "" "rs1463680" "0" "" "" "g.45955269G>A" "" "benign" "" "0000944743" "1" "10" "3" "46016851" "46016851" "subst" "0.441668" "00006" "FYCO1_000018" "g.46016851A>T" "16/25 families cataract" "{PMID:Saleem 2022:35638468}" "" "" "" "Germline" "" "rs751552" "0" "" "" "g.45975359A>T" "" "benign" "" "0000944744" "1" "30" "3" "46014545" "46014545" "subst" "0.125937" "00006" "FYCO1_000054" "g.46014545T>G" "6/25 families cataract" "{PMID:Saleem 2022:35638468}" "" "" "" "Germline" "" "rs41289622" "0" "" "" "g.45973053T>G" "" "likely benign" "" "0000944745" "1" "10" "3" "46000870" "46000870" "subst" "0.127523" "00006" "FYCO1_000044" "g.46000870G>A" "11/25 families cataract" "{PMID:Saleem 2022:35638468}" "" "" "" "Germline" "" "rs13069079" "0" "" "" "g.45959378G>A" "" "benign" "" "0000944746" "3" "10" "3" "46001063" "46001063" "subst" "0.562348" "00006" "FYCO1_000045" "g.46001063G>A" "15/25 families cataract" "{PMID:Saleem 2022:35638468}" "" "" "homozygous and heterozygous cases" "Germline" "" "rs1532071" "0" "" "" "g.45959571G>A" "" "benign" "" "0000944747" "3" "90" "3" "46009781" "46009781" "subst" "0" "00006" "FYCO1_000053" "g.46009781G>A" "" "{PMID:Chen 2011:21636066}" "" "" "" "Germline" "yes" "" "0" "" "" "g.45968289G>A" "" "pathogenic (recessive)" "" "0000944748" "3" "90" "3" "46008620" "46008620" "subst" "2.03274E-5" "00006" "FYCO1_000023" "g.46008620G>A" "" "{PMID:Chen 2011:21636066}" "" "" "" "Germline" "yes" "" "0" "" "" "g.45967128G>A" "" "pathogenic (recessive)" "" "0000944749" "3" "90" "3" "46008620" "46008620" "subst" "2.03274E-5" "00006" "FYCO1_000023" "g.46008620G>A" "" "{PMID:Chen 2011:21636066}" "" "" "" "Germline" "yes" "" "0" "" "" "g.45967128G>A" "" "pathogenic (recessive)" "" "0000944750" "3" "90" "3" "46008620" "46008620" "subst" "2.03274E-5" "00006" "FYCO1_000023" "g.46008620G>A" "" "{PMID:Chen 2011:21636066}" "" "" "" "Germline" "yes" "" "0" "" "" "g.45967128G>A" "" "pathogenic (recessive)" "" "0000944751" "3" "90" "3" "46008065" "46008065" "subst" "4.08137E-6" "00006" "FYCO1_000050" "g.46008065G>A" "" "{PMID:Chen 2011:21636066}" "" "" "" "Germline" "yes" "" "0" "" "" "g.45966573G>A" "" "pathogenic (recessive)" "" "0000944752" "3" "90" "3" "46007996" "46007996" "subst" "8.16686E-6" "00006" "FYCO1_000049" "g.46007996G>A" "" "{PMID:Chen 2011:21636066}" "" "" "" "Germline" "yes" "" "0" "" "" "g.45966504G>A" "" "pathogenic (recessive)" "" "0000944753" "3" "90" "3" "46006524" "46006524" "subst" "1.21902E-5" "00006" "FYCO1_000048" "g.46006524C>A" "" "{PMID:Chen 2011:21636066}" "" "" "" "Germline" "yes" "" "0" "" "" "g.45965032C>A" "" "pathogenic (recessive)" "" "0000944754" "3" "90" "3" "45999944" "45999944" "del" "0" "00006" "FYCO1_000043" "g.45999944del" "" "{PMID:Chen 2011:21636066}" "" "3755delC" "" "Germline" "yes" "" "0" "" "" "g.45958452del" "" "pathogenic (recessive)" "" "0000944755" "3" "90" "3" "45996823" "45996827" "dup" "0" "00006" "FYCO1_000042" "g.45996823_45996827dup" "" "{PMID:Chen 2011:21636066}" "" "3858_3862dupGGAAT" "" "Germline" "yes" "" "0" "" "" "g.45955331_45955335dup" "" "pathogenic (recessive)" "" "0000944756" "3" "90" "3" "45996823" "45996827" "dup" "0" "00006" "FYCO1_000042" "g.45996823_45996827dup" "" "{PMID:Chen 2011:21636066}" "" "3858_3862dupGGAAT" "" "Germline" "yes" "" "0" "" "" "g.45955331_45955335dup" "" "pathogenic (recessive)" "" "0000944757" "3" "70" "3" "45972687" "45972687" "subst" "4.07953E-6" "00006" "FYCO1_000041" "g.45972687A>G" "" "{PMID:Chen 2011:21636066}" "" "" "" "Germline" "yes" "" "0" "" "" "g.45931195A>G" "" "likely pathogenic (recessive)" "" "0000944758" "3" "70" "3" "45972687" "45972687" "subst" "4.07953E-6" "00006" "FYCO1_000041" "g.45972687A>G" "" "{PMID:Chen 2011:21636066}" "" "" "" "Germline" "yes" "" "0" "" "" "g.45931195A>G" "" "likely pathogenic (recessive)" "" "0000944759" "3" "90" "3" "46009280" "46009280" "subst" "0" "00006" "FYCO1_000051" "g.46009280G>A" "" "{PMID:Pras 2011:11519376}, {PMID:Chen 2011:21636066}" "" "" "" "Germline" "yes" "" "0" "" "" "g.45967788G>A" "" "pathogenic (recessive)" "" "0000944760" "3" "90" "3" "46008461" "46008461" "subst" "0" "00006" "FYCO1_000038" "g.46008461G>A" "" "{PMID:Aprahamian 2021:34282983}" "" "" "" "Germline" "" "" "0" "" "" "g.45966969G>A" "" "pathogenic (recessive)" "" "0000944761" "3" "90" "3" "46008322" "46008322" "del" "0" "00006" "FYCO1_000039" "g.46008322del" "" "{PMID:Aldahmesh 2012:22935719}, {PMID:Khan 2015:26622071}" "" "" "" "Germline" "yes" "" "0" "" "" "g.45966830del" "" "pathogenic (recessive)" "" "0000944762" "3" "90" "3" "46014670" "46014670" "subst" "0" "00006" "FYCO1_000040" "g.46014670A>G" "" "{PMID:Khan 2015:26622071}" "" "T449C" "" "Germline" "" "" "0" "" "" "g.45973178A>G" "" "pathogenic (recessive)" "" "0000954111" "11" "90" "3" "46010018" "46010018" "subst" "0" "00006" "FYCO1_000056" "g.46010018G>A" "" "{PMID:Li 2018:29914532}" "" "" "" "Germline" "" "" "0" "" "" "g.45968526G>A" "" "pathogenic (recessive)" "" "0000954117" "21" "90" "3" "46000884" "46000884" "subst" "2.04117E-5" "00006" "FYCO1_000055" "g.46000884C>A" "" "{PMID:Li 2018:29914532}" "" "" "" "Germline" "" "" "0" "" "" "g.45959392C>A" "" "pathogenic (recessive)" "" "0000954856" "3" "90" "3" "46008322" "46008322" "del" "0" "00006" "FYCO1_000039" "g.46008322del" "" "{PMID:Patel 2017:27878435}" "" "c.2505delA" "" "Germline" "yes" "" "0" "" "" "g.45966830del" "" "pathogenic (recessive)" "" "0000954877" "1" "90" "3" "46008114" "46008115" "del" "0" "00006" "FYCO1_000059" "g.46008114_46008115del" "" "{PMID:Patel 2017:27878435}" "" "" "" "Germline" "yes" "" "0" "" "" "g.45966622_45966623del" "" "pathogenic (recessive)" "" "0000954898" "2" "90" "3" "46008481" "46008481" "del" "8.1722E-6" "00006" "FYCO1_000024" "g.46008481del" "" "{PMID:Patel 2017:27878435}" "" "" "" "Germline" "yes" "" "0" "" "" "g.45966989del" "" "pathogenic (recessive)" "" "0000954913" "1" "10" "3" "46000001" "46000001" "subst" "4.06141E-5" "00006" "FYCO1_000057" "g.46000001C>T" "" "{PMID:Reis 2013:23508780}" "" "" "" "Germline" "no" "" "0" "" "" "g.45958509C>T" "" "benign" "" "0000954923" "1" "10" "3" "46003834" "46003834" "subst" "1.21818E-5" "00006" "FYCO1_000058" "g.46003834T>C" "" "{PMID:Reis 2013:23508780}" "" "" "" "Germline" "no" "" "0" "" "" "g.45962342T>C" "" "benign" "" "0000954984" "3" "70" "3" "46008418" "46008419" "del" "0" "00006" "FYCO1_000060" "g.46008418_46008419del" "" "{PMID:Kessel 2021:34169787}" "" "" "ACMG PVS1, PM2" "Germline" "" "" "0" "" "" "g.45966926_45966927del" "" "likely pathogenic (recessive)" "" "0000957456" "3" "50" "3" "46021270" "46021270" "subst" "0" "00006" "FYCO1_000061" "g.46021270T>A" "" "{PMID:Liu 2023:37337769}" "" "" "" "Germline" "" "" "0" "" "" "g.45979778T>A" "" "VUS" "" "0000975839" "0" "50" "3" "45972345" "45972345" "subst" "0" "01804" "CXCR6_000038" "g.45972345G>A" "" "" "" "FYCO1(NM_001386424.1):c.4364C>T (p.(Ser1455Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975840" "0" "50" "3" "46000898" "46000898" "subst" "0" "01804" "CXCR6_000039" "g.46000898G>A" "" "" "" "FYCO1(NM_024513.4):c.3574C>T (p.(Arg1192Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975841" "0" "50" "3" "46007808" "46007808" "subst" "0" "01804" "CXCR6_000040" "g.46007808C>A" "" "" "" "FYCO1(NM_024513.4):c.3018G>T (p.(Gln1006His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033972" "0" "50" "3" "45972379" "45972379" "subst" "0" "01804" "CXCR6_000041" "g.45972379C>A" "" "" "" "FYCO1(NM_001386424.1):c.4330G>T (p.(Asp1444Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes FYCO1 ## Count = 161 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/Exon}}" "0000096836" "00008230" "90" "3945" "-1" "3945" "-1" "c.3945-1G>C" "r.spl" "p.?" "14i" "0000096839" "00008230" "90" "3670" "0" "3670" "0" "c.3670C>T" "r.(?)" "p.(Arg1224*)" "13" "0000249034" "00008230" "10" "289" "-14" "289" "-14" "c.289-14T>A" "r.(=)" "p.(=)" "" "0000254731" "00008230" "30" "1121" "0" "1121" "0" "c.1121T>C" "r.(?)" "p.(Met374Thr)" "" "0000254748" "00008230" "30" "13081" "0" "13081" "0" "c.*8644T>C" "r.(=)" "p.(=)" "" "0000280943" "00008230" "10" "2036" "0" "2036" "0" "c.2036C>T" "r.(?)" "p.(Ala679Val)" "" "0000280944" "00008230" "10" "267" "0" "267" "0" "c.267C>A" "r.(?)" "p.(Arg89=)" "" "0000280945" "00008230" "10" "3924" "0" "3924" "0" "c.3924C>T" "r.(?)" "p.(Leu1308=)" "" "0000280946" "00008230" "10" "749" "0" "749" "0" "c.749G>A" "r.(?)" "p.(Arg250Gln)" "" "0000280947" "00008230" "10" "962" "0" "962" "0" "c.962G>C" "r.(?)" "p.(Gly321Ala)" "" "0000288004" "00008230" "30" "1063" "0" "1063" "0" "c.1063C>T" "r.(?)" "p.(Arg355Trp)" "" "0000288006" "00008230" "90" "1288" "0" "1288" "0" "c.1288C>T" "r.(?)" "p.(Gln430Ter)" "" "0000288007" "00008230" "30" "1474" "0" "1474" "0" "c.1474C>T" "r.(?)" "p.(Arg492Trp)" "" "0000288008" "00008230" "30" "1843" "0" "1843" "0" "c.1843C>T" "r.(?)" "p.(Arg615Trp)" "" "0000288009" "00008230" "30" "186" "0" "186" "0" "c.186C>T" "r.(?)" "p.(Thr62=)" "" "0000288010" "00008230" "30" "2037" "0" "2037" "0" "c.2037G>A" "r.(?)" "p.(Ala679=)" "" "0000288011" "00008230" "10" "2179" "0" "2179" "0" "c.2179C>A" "r.(?)" "p.(His727Asn)" "" "0000288012" "00008230" "30" "3419" "0" "3419" "0" "c.3419G>A" "r.(?)" "p.(Arg1140Gln)" "" "0000288013" "00008230" "30" "4319" "0" "4319" "0" "c.4319C>T" "r.(?)" "p.(Thr1440Ile)" "" "0000288014" "00008230" "10" "713" "0" "713" "0" "c.713A>C" "r.(?)" "p.(Glu238Ala)" "" "0000346092" "00008230" "90" "1387" "0" "1387" "0" "c.1387G>T" "r.(?)" "p.(Gly463Ter)" "" "0000348195" "00008230" "50" "4321" "0" "4321" "0" "c.4321C>A" "r.(?)" "p.(Pro1441Thr)" "" "0000519885" "00008230" "50" "4394" "0" "4394" "0" "c.4394C>T" "r.(?)" "p.(Thr1465Met)" "" "0000519886" "00008230" "50" "4321" "0" "4321" "0" "c.4321C>A" "r.(?)" "p.(Pro1441Thr)" "" "0000519889" "00008230" "30" "3419" "0" "3419" "0" "c.3419G>A" "r.(?)" "p.(Arg1140Gln)" "" "0000519890" "00008230" "30" "3212" "0" "3212" "0" "c.3212A>G" "r.(?)" "p.(Gln1071Arg)" "" "0000519892" "00008230" "30" "2613" "0" "2613" "0" "c.2613G>A" "r.(?)" "p.(Arg871=)" "" "0000519893" "00008230" "10" "2006" "0" "2006" "0" "c.2006G>A" "r.(?)" "p.(Ser669Asn)" "" "0000519894" "00008230" "30" "2006" "0" "2006" "0" "c.2006G>A" "r.(?)" "p.(Ser669Asn)" "" "0000519895" "00008230" "10" "1985" "0" "1985" "0" "c.1985C>T" "r.(?)" "p.(Ser662Phe)" "" "0000519896" "00008230" "30" "1985" "0" "1985" "0" "c.1985C>T" "r.(?)" "p.(Ser662Phe)" "" "0000519897" "00008230" "30" "1887" "0" "1887" "0" "c.1887C>T" "r.(?)" "p.(Val629=)" "" "0000519898" "00008230" "30" "1843" "0" "1843" "0" "c.1843C>T" "r.(?)" "p.(Arg615Trp)" "" "0000519899" "00008230" "30" "1387" "0" "1387" "0" "c.1387G>A" "r.(?)" "p.(Gly463Arg)" "" "0000519900" "00008230" "30" "1325" "0" "1325" "0" "c.1325G>A" "r.(?)" "p.(Arg442Gln)" "" "0000519901" "00008230" "10" "1142" "0" "1142" "0" "c.1142C>T" "r.(?)" "p.(Thr381Met)" "" "0000519902" "00008230" "90" "1141" "0" "1141" "0" "c.1141dup" "r.(?)" "p.(Thr381AsnfsTer15)" "" "0000519903" "00008230" "30" "1016" "0" "1016" "0" "c.1016G>A" "r.(?)" "p.(Arg339Gln)" "" "0000519905" "00008230" "50" "734" "0" "734" "0" "c.734G>A" "r.(?)" "p.(Arg245Gln)" "" "0000519906" "00008230" "30" "56" "-4" "56" "-4" "c.56-4A>G" "r.spl?" "p.?" "" "0000519907" "00008230" "30" "-113" "8" "-113" "8" "c.-113+8C>A" "r.(=)" "p.(=)" "" "0000592091" "00008230" "90" "2206" "0" "2206" "0" "c.2206C>T" "r.(?)" "p.(Gln736*)" "" "0000592092" "00008230" "90" "2345" "0" "2345" "0" "c.2345del" "r.(?)" "p.(Gln782Argfs*32)" "" "0000592094" "00008230" "90" "2206" "0" "2206" "0" "c.2206C>T" "r.(?)" "p.(Gln736*)" "" "0000592095" "00008230" "90" "3151" "-2" "3151" "-2" "c.3151-2A>C" "r.spl" "p.?" "" "0000608727" "00008230" "30" "2815" "0" "2815" "0" "c.2815G>C" "r.(?)" "p.(Ala939Pro)" "" "0000608728" "00008230" "50" "356" "0" "356" "0" "c.356A>G" "r.(?)" "p.(Asp119Gly)" "" "0000651255" "00008230" "30" "3789" "0" "3789" "0" "c.3789A>G" "r.(=)" "p.(=)" "" "0000651256" "00008230" "30" "3419" "0" "3419" "0" "c.3419G>A" "r.(?)" "p.(Arg1140Gln)" "" "0000651257" "00008230" "30" "2980" "0" "2980" "0" "c.2980G>A" "r.(?)" "p.(Glu994Lys)" "" "0000651258" "00008230" "50" "1985" "0" "1985" "0" "c.1985C>T" "r.(?)" "p.(Ser662Phe)" "" "0000651259" "00008230" "50" "713" "0" "713" "0" "c.713A>C" "r.(?)" "p.(Glu238Ala)" "" "0000654962" "00008230" "90" "4362" "-2" "4362" "-2" "c.4362-2A>G" "r.spl?" "p.?" "" "0000677001" "00008230" "50" "4277" "0" "4277" "0" "c.4277A>C" "r.(?)" "p.(Asn1426Thr)" "" "0000677002" "00008230" "30" "3323" "0" "3323" "0" "c.3323A>G" "r.(?)" "p.(Lys1108Arg)" "" "0000677003" "00008230" "30" "2612" "0" "2612" "0" "c.2612G>A" "r.(?)" "p.(Arg871Gln)" "" "0000677004" "00008230" "50" "1252" "0" "1252" "0" "c.1252G>A" "r.(?)" "p.(Glu418Lys)" "" "0000719443" "00008230" "70" "4270" "0" "4270" "0" "c.4270C>T" "r.(?)" "p.(Arg1424Ter)" "" "0000719444" "00008230" "50" "4118" "0" "4118" "0" "c.4118C>G" "r.(?)" "p.(Thr1373Ser)" "" "0000719445" "00008230" "30" "2541" "0" "2541" "0" "c.2541A>G" "r.(?)" "p.(Gln847=)" "" "0000719446" "00008230" "90" "778" "0" "796" "0" "c.778_796del" "r.(?)" "p.(Asn260LeufsTer30)" "" "0000801238" "00008230" "50" "3292" "0" "3292" "0" "c.3292G>A" "r.(?)" "p.(Ala1098Thr)" "" "0000801239" "00008230" "30" "2109" "0" "2109" "0" "c.2109G>A" "r.(?)" "p.(Gln703=)" "" "0000801240" "00008230" "50" "1549" "0" "1549" "0" "c.1549T>A" "r.(?)" "p.(Phe517Ile)" "" "0000801241" "00008230" "30" "869" "0" "869" "0" "c.869G>A" "r.(?)" "p.(Arg290His)" "" "0000801242" "00008230" "50" "630" "5" "630" "5" "c.630+5G>A" "r.spl?" "p.?" "" "0000814385" "00008230" "70" "539" "3" "539" "3" "c.539+3A>G" "r.spl" "p.(?)" "" "0000814452" "00008230" "90" "2443" "0" "2443" "0" "c.2443del" "r.(?)" "p.(Met815TrpfsTer6)" "" "0000814461" "00008230" "70" "395" "2" "395" "2" "c.395+2T>G" "r.spl" "p.(?)" "" "0000814491" "00008230" "90" "1237" "0" "1237" "0" "c.1237del" "r.(?)" "p.(Glu413ArgfsTer25)" "" "0000850336" "00008230" "50" "3322" "0" "3322" "0" "c.3322A>G" "r.(?)" "p.(Lys1108Glu)" "" "0000850337" "00008230" "50" "2427" "0" "2427" "0" "c.2427G>A" "r.(?)" "p.(Val809=)" "" "0000850338" "00008230" "50" "844" "0" "844" "0" "c.844C>G" "r.(?)" "p.(Arg282Gly)" "" "0000859029" "00008230" "30" "3285" "0" "3285" "0" "c.3285C>T" "r.(?)" "p.(Leu1095=)" "" "0000859030" "00008230" "30" "2242" "0" "2242" "0" "c.2242A>G" "r.(?)" "p.(Thr748Ala)" "" "0000885848" "00008230" "30" "13081" "0" "13081" "0" "c.*8644T>C" "r.(=)" "p.(=)" "" "0000921628" "00008230" "30" "3924" "0" "3924" "0" "c.3924C>T" "r.(?)" "p.(Leu1308=)" "" "0000921629" "00008230" "30" "1335" "0" "1335" "0" "c.1335G>A" "r.(?)" "p.(Leu445=)" "" "0000921630" "00008230" "30" "749" "0" "749" "0" "c.749G>A" "r.(?)" "p.(Arg250Gln)" "" "0000921648" "00008230" "30" "2036" "0" "2036" "0" "c.2036C>T" "r.(?)" "p.(Ala679Val)" "" "0000921649" "00008230" "30" "962" "0" "962" "0" "c.962G>C" "r.(?)" "p.(Gly321Ala)" "" "0000921650" "00008230" "30" "749" "0" "749" "0" "c.749G>A" "r.(?)" "p.(Arg250Gln)" "" "0000921672" "00008230" "30" "3924" "0" "3924" "0" "c.3924C>T" "r.(?)" "p.(Leu1308=)" "" "0000921673" "00008230" "30" "2036" "0" "2036" "0" "c.2036C>T" "r.(?)" "p.(Ala679Val)" "" "0000921674" "00008230" "30" "1335" "0" "1335" "0" "c.1335G>A" "r.(?)" "p.(Leu445=)" "" "0000921675" "00008230" "30" "962" "0" "962" "0" "c.962G>C" "r.(?)" "p.(Gly321Ala)" "" "0000921676" "00008230" "30" "749" "0" "749" "0" "c.749G>A" "r.(?)" "p.(Arg250Gln)" "" "0000921677" "00008230" "30" "267" "0" "267" "0" "c.267C>A" "r.(?)" "p.(Arg89=)" "" "0000921699" "00008230" "30" "3924" "0" "3924" "0" "c.3924C>T" "r.(?)" "p.(Leu1308=)" "" "0000921700" "00008230" "30" "2036" "0" "2036" "0" "c.2036C>T" "r.(?)" "p.(Ala679Val)" "" "0000921701" "00008230" "30" "962" "0" "962" "0" "c.962G>C" "r.(?)" "p.(Gly321Ala)" "" "0000921702" "00008230" "30" "749" "0" "749" "0" "c.749G>A" "r.(?)" "p.(Arg250Gln)" "" "0000921703" "00008230" "30" "267" "0" "267" "0" "c.267C>A" "r.(?)" "p.(Arg89=)" "" "0000921728" "00008230" "30" "3003" "0" "3003" "0" "c.3003C>A" "r.(?)" "p.(Asn1001Lys)" "" "0000921729" "00008230" "30" "3001" "0" "3001" "0" "c.3001A>G" "r.(?)" "p.(Asn1001Asp)" "" "0000921730" "00008230" "30" "2036" "0" "2036" "0" "c.2036C>T" "r.(?)" "p.(Ala679Val)" "" "0000921731" "00008230" "30" "1339" "0" "1339" "0" "c.1339C>T" "r.(?)" "p.(Arg447Cys)" "" "0000921732" "00008230" "30" "962" "0" "962" "0" "c.962G>C" "r.(?)" "p.(Gly321Ala)" "" "0000921733" "00008230" "30" "267" "0" "267" "0" "c.267C>A" "r.(?)" "p.(Arg89=)" "" "0000921734" "00008230" "30" "3924" "0" "3924" "0" "c.3924C>T" "r.(?)" "p.(Leu1308=)" "" "0000921735" "00008230" "30" "2739" "0" "2739" "0" "c.2739C>T" "r.(?)" "p.(Cys913=)" "" "0000921736" "00008230" "30" "819" "0" "819" "0" "c.819A>G" "r.(?)" "p.(Gln273=)" "" "0000921737" "00008230" "30" "749" "0" "749" "0" "c.749G>A" "r.(?)" "p.(Arg250Gln)" "" "0000944701" "00008230" "50" "1538" "0" "1538" "0" "c.1538G>A" "r.(?)" "p.(Arg513Gln)" "" "0000944718" "00008230" "90" "2206" "0" "2206" "0" "c.2206C>T" "r.(?)" "p.(Gln736*)" "" "0000944719" "00008230" "90" "2206" "0" "2206" "0" "c.2206C>T" "r.(?)" "p.(Gln736*)" "" "0000944720" "00008230" "90" "2206" "0" "2206" "0" "c.2206C>T" "r.(?)" "p.(Gln736*)" "" "0000944721" "00008230" "90" "2206" "0" "2206" "0" "c.2206C>T" "r.(?)" "p.(Gln736*)" "" "0000944722" "00008230" "90" "4270" "0" "4270" "0" "c.4270C>T" "r.(?)" "p.(Arg1424Ter)" "" "0000944723" "00008230" "90" "3196" "0" "3196" "0" "c.3196del" "r.(?)" "p.(His1066IlefsTer10)" "" "0000944724" "00008230" "90" "4127" "0" "4127" "0" "c.4127T>C" "r.(?)" "p.(Leu1376Pro)" "" "0000944725" "00008230" "90" "2206" "0" "2206" "0" "c.2206C>T" "r.(?)" "p.(Gln736*)" "" "0000944726" "00008230" "90" "1387" "0" "1387" "0" "c.1387G>T" "r.(?)" "p.(Gly463*)" "" "0000944727" "00008230" "90" "1621" "0" "1621" "0" "c.1621C>T" "r.(?)" "p.(Gln541*)" "" "0000944728" "00008230" "90" "1621" "0" "1621" "0" "c.1621C>T" "r.(?)" "p.(Gln541*)" "" "0000944729" "00008230" "90" "1621" "0" "1621" "0" "c.1621C>T" "r.(?)" "p.(Gln541*)" "" "0000944730" "00008230" "90" "3151" "-29" "3151" "-7" "c.3151-29_3151-7del" "r.(?)" "p.(Arg1424Ter)" "" "0000944731" "00008230" "90" "4127" "0" "4127" "0" "c.4127T>C" "r.(?)" "p.(Leu1376Pro)" "" "0000944732" "00008230" "90" "4127" "0" "4127" "0" "c.4127T>C" "r.(?)" "p.(Leu1376Pro)" "" "0000944733" "00008230" "90" "4127" "0" "4127" "0" "c.4127T>C" "r.(?)" "p.(Leu1376Pro)" "" "0000944734" "00008230" "90" "4127" "0" "4127" "0" "c.4127T>C" "r.(?)" "p.(Leu1376Pro)" "" "0000944735" "00008230" "30" "3419" "0" "3419" "0" "c.3419G>A" "r.(?)" "p.(Arg1140Gln)" "" "0000944737" "00008230" "10" "267" "0" "267" "0" "c.267C>A" "r.(?)" "p.(Arg89=)" "" "0000944738" "00008230" "10" "819" "0" "819" "0" "c.819A>G" "r.(?)" "p.(Gln273=)" "" "0000944739" "00008230" "10" "1335" "0" "1335" "0" "c.1335G>A" "r.(?)" "p.(Leu445=)" "" "0000944740" "00008230" "10" "2739" "0" "2739" "0" "c.2739C>T" "r.(?)" "p.(Cys913=)" "" "0000944741" "00008230" "30" "3789" "0" "3789" "0" "c.3789A>G" "r.(?)" "p.(Thr1263=)" "" "0000944742" "00008230" "10" "3924" "0" "3924" "0" "c.3924C>T" "r.(?)" "p.(Leu1308=)" "" "0000944743" "00008230" "10" "289" "-14" "289" "-14" "c.289-14T>A" "r.(?)" "p.(=)" "" "0000944744" "00008230" "30" "539" "35" "539" "35" "c.539+35A>C" "r.(?)" "p.(=)" "" "0000944745" "00008230" "10" "3587" "15" "3587" "15" "c.3587+15C>T" "r.(?)" "p.(=)" "" "0000944746" "00008230" "10" "3438" "-29" "3438" "-29" "c.3438-29C>T" "r.(?)" "p.(=)" "" "0000944747" "00008230" "90" "1045" "0" "1045" "0" "c.1045C>T" "r.(?)" "p.(Gln349Ter)" "8" "0000944748" "00008230" "90" "2206" "0" "2206" "0" "c.2206C>T" "r.(?)" "p.(Gln736Ter)" "8" "0000944749" "00008230" "90" "2206" "0" "2206" "0" "c.2206C>T" "r.(?)" "p.(Gln736Ter)" "8" "0000944750" "00008230" "90" "2206" "0" "2206" "0" "c.2206C>T" "r.(?)" "p.(Gln736Ter)" "8" "0000944751" "00008230" "90" "2761" "0" "2761" "0" "c.2761C>T" "r.(?)" "p.(Arg921Ter)" "8" "0000944752" "00008230" "90" "2830" "0" "2830" "0" "c.2830C>T" "r.(?)" "p.(Arg944Ter)" "8" "0000944753" "00008230" "90" "3150" "1" "3150" "1" "c.3150+1G>T" "r.spl" "p.?" "9i" "0000944754" "00008230" "90" "3755" "0" "3755" "0" "c.3755del" "r.(?)" "p.(Ala1252AspfsTer71)" "13" "0000944755" "00008230" "90" "3858" "0" "3862" "0" "c.3858_3862dup" "r.(?)" "p.(Leu1288TrpfsTer37)" "14" "0000944756" "00008230" "90" "3858" "0" "3862" "0" "c.3858_3862dup" "r.(?)" "p.(Leu1288TrpfsTer37)" "14" "0000944757" "00008230" "70" "4127" "0" "4127" "0" "c.4127T>C" "r.(?)" "p.(Leu1376Pro)" "16" "0000944758" "00008230" "70" "4127" "0" "4127" "0" "c.4127T>C" "r.(?)" "p.(Leu1376Pro)" "16" "0000944759" "00008230" "90" "1546" "0" "1546" "0" "c.1546C>T" "r.(?)" "p.(Gln516Ter)" "8" "0000944760" "00008230" "90" "2365" "0" "2365" "0" "c.2365C>T" "r.(?)" "p.(Gln789*)" "8" "0000944761" "00008230" "90" "2505" "0" "2505" "0" "c.2505del" "r.(?)" "p.(Ala836Profs*80)" "" "0000944762" "00008230" "90" "449" "0" "449" "0" "c.449T>C" "r.(?)" "p.(Ile150Thr)" "" "0000954111" "00008230" "90" "808" "0" "808" "0" "c.808C>T" "r.(?)" "p.(Gln270Ter)" "" "0000954117" "00008230" "90" "3587" "1" "3587" "1" "c.3587+1G>T" "r.spl" "p.?" "" "0000954856" "00008230" "90" "2505" "0" "2505" "0" "c.2505del" "r.(?)" "p.(Ala836ProfsTer80)" "" "0000954877" "00008230" "90" "2714" "0" "2715" "0" "c.2714_2715del" "r.(?)" "p.(Thr905SerfsTer2)" "" "0000954898" "00008230" "90" "2345" "0" "2345" "0" "c.2345del" "r.(?)" "p.(Gln782ArgfsTer32)" "" "0000954913" "00008230" "10" "3698" "0" "3698" "0" "c.3698G>A" "r.(?)" "p.(Gly1233Asp)" "" "0000954923" "00008230" "10" "3320" "0" "3320" "0" "c.3320A>G" "r.(?)" "p.(Asn1107Ser)" "" "0000954984" "00008230" "70" "2407" "0" "2408" "0" "c.2407_2408del" "r.(?)" "p.(Leu803GlyfsTer2)" "" "0000957456" "00008230" "50" "215" "0" "215" "0" "c.215A>T" "r.(?)" "p.(Asp72Val)" "4" "0000975839" "00008230" "50" "4251" "218" "4251" "218" "c.4251+218C>T" "r.(=)" "p.(=)" "" "0000975840" "00008230" "50" "3574" "0" "3574" "0" "c.3574C>T" "r.(?)" "p.(Arg1192Trp)" "" "0000975841" "00008230" "50" "3018" "0" "3018" "0" "c.3018G>T" "r.(?)" "p.(Gln1006His)" "" "0001033972" "00008230" "50" "4251" "184" "4251" "184" "c.4251+184G>T" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 96 "{{screeningid}}" "{{variantid}}" "0000065180" "0000096836" "0000065183" "0000096839" "0000261964" "0000592091" "0000261965" "0000592092" "0000261966" "0000592094" "0000261967" "0000592095" "0000294566" "0000651255" "0000294567" "0000651256" "0000294568" "0000651257" "0000294569" "0000651258" "0000294570" "0000651259" "0000386705" "0000814385" "0000386705" "0000814461" "0000386772" "0000814452" "0000386772" "0000814491" "0000435596" "0000921628" "0000435596" "0000921629" "0000435596" "0000921630" "0000435597" "0000921648" "0000435597" "0000921649" "0000435597" "0000921650" "0000435598" "0000921672" "0000435598" "0000921673" "0000435598" "0000921674" "0000435598" "0000921675" "0000435598" "0000921676" "0000435598" "0000921677" "0000435599" "0000921699" "0000435599" "0000921700" "0000435599" "0000921701" "0000435599" "0000921702" "0000435599" "0000921703" "0000435600" "0000921728" "0000435600" "0000921729" "0000435600" "0000921730" "0000435600" "0000921731" "0000435600" "0000921732" "0000435600" "0000921733" "0000435600" "0000921734" "0000435600" "0000921735" "0000435600" "0000921736" "0000435600" "0000921737" "0000443299" "0000944701" "0000443309" "0000944718" "0000443310" "0000944719" "0000443311" "0000944720" "0000443312" "0000944721" "0000443313" "0000944722" "0000443314" "0000944723" "0000443315" "0000944724" "0000443316" "0000944725" "0000443317" "0000944726" "0000443318" "0000944727" "0000443319" "0000944728" "0000443320" "0000944729" "0000443321" "0000944730" "0000443322" "0000944731" "0000443323" "0000944732" "0000443324" "0000944733" "0000443325" "0000944734" "0000443326" "0000944735" "0000443327" "0000944737" "0000443328" "0000944738" "0000443329" "0000944739" "0000443330" "0000944740" "0000443331" "0000944741" "0000443332" "0000944742" "0000443333" "0000944743" "0000443334" "0000944744" "0000443335" "0000944745" "0000443336" "0000944746" "0000443337" "0000944747" "0000443338" "0000944748" "0000443339" "0000944749" "0000443340" "0000944750" "0000443341" "0000944751" "0000443342" "0000944752" "0000443343" "0000944753" "0000443344" "0000944754" "0000443345" "0000944755" "0000443346" "0000944756" "0000443347" "0000944757" "0000443348" "0000944758" "0000443349" "0000944759" "0000443350" "0000944760" "0000443351" "0000944761" "0000443352" "0000944762" "0000445914" "0000954111" "0000445914" "0000954117" "0000446512" "0000954856" "0000446533" "0000954877" "0000446533" "0000954898" "0000446567" "0000954923" "0000446574" "0000954913" "0000446631" "0000954984" "0000448076" "0000957456"